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Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityMolecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
P2860
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Inheritance of CMT1A duplication from a mosaic father.
@ast
Inheritance of CMT1A duplication from a mosaic father.
@en
type
label
Inheritance of CMT1A duplication from a mosaic father.
@ast
Inheritance of CMT1A duplication from a mosaic father.
@en
prefLabel
Inheritance of CMT1A duplication from a mosaic father.
@ast
Inheritance of CMT1A duplication from a mosaic father.
@en
P2093
P2860
P356
P1476
Inheritance of CMT1A duplication from a mosaic father.
@en
P2093
MacMillan J
Thompson P
Upadhyaya M
P2860
P304
P356
10.1136/JMG.32.6.483
P407
P577
1995-06-01T00:00:00Z