Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
about
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHDDiagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defectsSequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophyMolecular diagnosis of facioscapulohumeral muscular dystrophy.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy familiesAlternative splicing and muscular dystrophy.Focal and other unusual presentations of facioscapulohumeral muscular dystrophy.RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA.Facioscapulohumeral Muscular Dystrophy.
P2860
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P2860
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
Pulsed-field gel electrophores ...... y (FSHD)-associated deletions.
@en
Pulsed-field gel electrophores ...... pulohumeral muscular dystrophy
@nl
type
label
Pulsed-field gel electrophores ...... y (FSHD)-associated deletions.
@en
Pulsed-field gel electrophores ...... pulohumeral muscular dystrophy
@nl
prefLabel
Pulsed-field gel electrophores ...... y (FSHD)-associated deletions.
@en
Pulsed-field gel electrophores ...... pulohumeral muscular dystrophy
@nl
P2093
P356
P1433
P1476
Pulsed-field gel electrophores ...... y (FSHD)-associated deletions.
@en
P2093
Padberg GW
van Deutekom JC
van Ommen GJ
P356
10.1006/GENO.1994.1006
P577
1994-01-01T00:00:00Z