Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: Consequences for 18p deletion syndrome

Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the normally repressed DUX4 gene within the D4Z4 repeat array. The most common form, FSHD1, is caused by a D4Z4 repeat array contraction to a size of 1-10 units (normal range 10–100...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Lemmers, Richard J.L.F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A.L., Heard, Patricia, Bakker, Bert, Tapscott, Stephen, Cody, Jannine D., Tawil, Rabi, van der Maarel, Silvère M.
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4475473/
https://ncbi.nlm.nih.gov/pubmed/25820463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22792
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