Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2). Recent studies have shown that the clinical manifestation of FSHD1 can be modified by mutations in the SMCHD...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genomics
Auteurs principaux: Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David N., Upadhyaya, Meena, Chuzhanova, Nadia
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Primary Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4597391/
https://ncbi.nlm.nih.gov/pubmed/26446085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0047-x
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires