Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR (Q68147477)

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22 September 2019

title

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

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22 September 2019

2

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22 September 2019

Markus Grompe

series ordinal

3

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22 September 2019

author name string

M W Kilimann

series ordinal

1

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22 September 2019

C T Caskey

series ordinal

4

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22 September 2019

publication date

1 May 1992

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22 September 2019

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22 September 2019

volume

89

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issue

3

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22 September 2019

page(s)

253-258

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https://scigraph.springernature.com/pub.10.1007/bf00220535

22 September 2019

exact match

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cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

1 reference

12 December 2020

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

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

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12 December 2020

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1007/BF00220535

1 reference

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22 September 2019

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