The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. - Wikidata - wikimedia - TriplyDB

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

http://www.wikidata.org/entity/Q33679539

about

The detection of large deletions or duplications in genomic DNA.Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.

P2860

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P2860

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

http://www.wikidata.org/entity/Q33679539

description

1997 nî lūn-bûn

@nan

1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

The clinical and molecular gen ...... ystrophy: an updated protocol.

@ast

The clinical and molecular gen ...... ystrophy: an updated protocol.

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type

label

The clinical and molecular gen ...... ystrophy: an updated protocol.

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The clinical and molecular gen ...... ystrophy: an updated protocol.

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prefLabel

The clinical and molecular gen ...... ystrophy: an updated protocol.

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The clinical and molecular gen ...... ystrophy: an updated protocol.

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Journal of Medical Genetics

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The clinical and molecular gen ...... ystrophy: an updated protocol.

@en

P2093

Bakker E

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Buys CH

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Ginjaar IB

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Kneppers AL

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Scheffer H

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ten Kate LP

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van Essen AJ

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van Ommen GJ

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van der Hout AH

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P2860

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

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

Mutations in the sarcoglycan genes in patients with myopathy

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.

P304

805-812

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scholarly article

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10.1136/JMG.34.10.805

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10

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34

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1997-10-01T00:00:00Z

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13878179

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9350811

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1051085

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