Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation?
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference32 articles.
1. Dominant inheritance of Wiedemann-Beckwith syndrome: Further evidence for transmission of “unstable premutation” through carrier women
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3. Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface
4. Becker-type muscular dystrophy
5. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
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2. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene;Genomic Medicine;2008-09-20
3. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations;Behavioral and Brain Functions;2008-04-29
4. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls;Neurogenetics;2005-01-18
5. Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations;Human Genetics;1999-07-21
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