A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
about
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.What Have We Learned from Glycosyltransferase Knockouts in Mice?Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
P2860
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 11 January 2014
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@en
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@nl
type
label
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@en
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@nl
prefLabel
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@en
A novel missense mutation in P ...... with POMT1 nonsense mutations.
@nl
P2093
P2860
P1476
A novel missense mutation in P ...... with POMT1 nonsense mutations
@en
P2093
Jamie M Eskuri
Jessie H Conta
Kathleen Patterson
Richard Haas
Sidney M Gospe
Stephanie E Wallace
Thomas L Winder
Tobias Willer
P2860
P304
P356
10.1016/J.NMD.2014.01.001
P577
2014-01-11T00:00:00Z