Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
about
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeSteroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells.The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
P2860
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@ast
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@en
type
label
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@ast
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@en
prefLabel
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@ast
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@en
P2093
P2860
P356
P1476
Linkage and mutation analysis ...... t-Marie-Tooth disease type 1B.
@en
P2093
De Jonghe P
Timmerman V
Van Broeckhoven C
P2860
P304
P356
10.1136/JMG.31.10.811
P407
P577
1994-10-01T00:00:00Z