Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
about
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseDominant GDAP1 mutations cause predominantly mild CMT phenotypesCell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseMediator and human diseaseSNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseExome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyThe Arabidopsis thaliana Med25 mediator subunit integrates environmental cues to control plant development.Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Update on Charcot-Marie-Tooth disease.The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Emerging functions of multi-protein complex Mediator with special emphasis on plants.
P2860
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P2860
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
description
2006 nî lūn-bûn
@nan
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
name
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@ast
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@en
type
label
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@ast
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@en
prefLabel
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@ast
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
@en
P2860
P50
P356
P1476
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies
@en
P2093
Rafaëlle Bernard
P2860
P2888
P304
P356
10.1385/NMM:8:1-2:87
P577
2006-01-01T00:00:00Z
P6179
1052212316