Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
about
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyIndividual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseRippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromesGeneration of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHDProfound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophyFSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
P2860
Q33910577-03C7568E-D6C7-4E3A-9153-6068BE41ECBEQ34266481-B8A7D6F9-961D-4644-B75B-AB9540F7B7C2Q35518696-33829E51-9AB2-4332-8628-B337550009CDQ35608609-9BA502F5-BF91-4354-8AC7-54D9066F6D88Q35985502-501E53C7-43AD-4D33-969D-935ED9C625E2Q36295486-0F3BCFCB-8914-4934-A36D-573BCCD89CF5Q36549559-62FA9D4C-BC8F-4C75-848F-D14C837EB5ABQ37819663-F2121B7E-6C43-4CF1-8B48-955AB0034F61Q45290619-5B402DB1-4A66-4B65-AF9B-8A1B85921243Q47188917-990C4001-2B0F-4DB2-850E-2BF731A64BC0
P2860
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Identical de novo mutation at ...... different clinical expression.
@ast
Identical de novo mutation at ...... different clinical expression.
@en
type
label
Identical de novo mutation at ...... different clinical expression.
@ast
Identical de novo mutation at ...... different clinical expression.
@en
prefLabel
Identical de novo mutation at ...... different clinical expression.
@ast
Identical de novo mutation at ...... different clinical expression.
@en
P2093
P2860
P356
P1476
Identical de novo mutation at ...... different clinical expression
@en
P2093
D De Grandis
L Barbierato
P Maraschio
P2860
P304
P356
10.1136/JMG.35.9.778
P407
P577
1998-09-01T00:00:00Z