Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease (Q40744835)

23 September 2017

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title

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease (English)

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23 September 2017

1

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23 September 2017

Berg LP

2

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23 September 2017

Kakkar VV

series ordinal

3

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23 September 2017

Reiss J

series ordinal

4

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23 September 2017

language of work or name

English

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publication date

1 February 1994

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23 September 2017

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23 September 2017

volume

26

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23 September 2017

issue

1

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23 September 2017

page(s)

9-14

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

23 September 2017

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

21 January 2018

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Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853899409147321

Illegitimate transcription: transcription of any gene in any cell type

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853899409147321

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

21 January 2018

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Illegitimate transcription: its use in the study of inherited disease

21 January 2018

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De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

21 January 2018

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Factor VIII gene explains all cases of haemophilia A

21 January 2018

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Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

21 January 2018

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Point mutations in the dystrophin gene

21 January 2018

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Identification of a new DMD gene deletion by ectopic transcript analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

Point mutation in a Becker muscular dystrophy patient

21 January 2018

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Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

21 January 2018

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Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

21 January 2018

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

21 January 2018

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Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

21 January 2018

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Illegitimate (or ectopic) transcription proceeds through the usual promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

21 January 2018

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Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria

21 January 2018

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Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations

21 January 2018

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Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

21 January 2018

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Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

21 January 2018

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Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA.

21 January 2018

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

21 January 2018

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

21 January 2018

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Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

21 January 2018

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Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia

21 January 2018

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Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

21 January 2018

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A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

21 January 2018

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Cystic fibrosis in Bulgaria

21 January 2018

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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

21 January 2018

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IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

Alternative splicing in the first nucleotide binding fold of CFTR

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899409147321

10.3109/07853899409147321

21 January 2018

Identifiers

DOI

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23 September 2017

1 reference