Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
about
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulationSegregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Genetic and epigenetic contributors to FSHD.Facioscapulohumeral Muscular Dystrophy.A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
P2860
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@ast
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@en
type
label
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@ast
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@en
prefLabel
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@ast
Double SMCHD1 variants in FSHD ...... d disease penetrance in FSHD2.
@en
P2093
P2860
P50
P356
P1476
Double SMCHD1 variants in FSHD ...... nd disease penetrance in FSHD2
@en
P2093
Marlinde L van den Boogaard
Nicol Voermans
Nienke van der Stoep
Patrick J van der Vliet
Rabi Tawil
Richard J F L Lemmers
Stephen J Tapscott
P2860
P2888
P356
10.1038/EJHG.2015.55
P577
2015-03-18T00:00:00Z