DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
about
Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapyA program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetingsClinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingTranslation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesExon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?Correlation of knee strength to functional outcomes in Becker muscular dystrophy.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Clinical Utility Gene Card for: Becker muscular dystrophy.Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
P2860
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P2860
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@ast
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@en
type
label
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@ast
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@en
prefLabel
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@ast
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@en
P2093
P2860
P1476
DMD Trp3X nonsense mutation as ...... ild Becker muscular dystrophy.
@en
P2093
Andrew von Niederhausern
Angela Pickart
Ann Modrcin
Anne Connolly
Carol Saunders
Diane M Dunn
Giacomo P Comi
Jerry Mendell
Kevin M Flanigan
Livija Medne
P2860
P304
P356
10.1016/J.NMD.2009.08.010
P577
2009-09-29T00:00:00Z