Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations (Q34324968)

1 August 2017

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title

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations (English)

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1 August 2017

Roberts RG

1

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1 August 2017

Gardner RJ

series ordinal

2

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1 August 2017

Bobrow M

series ordinal

3

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1 August 2017

publication date

1 January 1994

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1 August 2017

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1 August 2017

volume

4

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1 August 2017

issue

1

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1 August 2017

page(s)

1-11

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A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

Exon definition may facilitate splice site selection in RNAs with multiple exons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

An alternative dystrophin transcript specific to peripheral nerve

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Transcription of the dystrophin gene in human muscle and non-muscle tissue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Illegitimate transcription: transcription of any gene in any cell type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Premature chain termination mutation causing Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Molecular definition of bovine argininosuccinate synthetase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

The rapid detection of unknown mutations in nucleic acids.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Illegitimate transcription: its use in the study of inherited disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Characterization of deletions in the dystrophin gene giving mild phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Nonsense mutations and diminished mRNA levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Duchenne muscular dystrophy gene expression in normal and diseased human muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Exon structure of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Point mutation in a Becker muscular dystrophy patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

A novel nonsense mutation in the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Dystrophin is a component of the subsynaptic membrane

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040102

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040102

1 reference

1 August 2017

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