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...

詳細記述

保存先:
書誌詳細
出版年:Hum Mutat
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
Article
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料