Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
about
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseThe homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.
P2860
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
description
2008 nî lūn-bûn
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2008年の論文
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name
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@ast
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@en
type
label
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@ast
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@en
prefLabel
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@ast
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@en
P2093
P2860
P356
P1433
P1476
Two novel mutations in the GDA ...... Charcot-Marie-Tooth syndrome.
@en
P2093
C Windpassinger
G Miltenberger
M Auer-Grumbach
R E Bittner
P2860
P356
10.1055/S-2008-1077085
P577
2008-02-01T00:00:00Z