A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
about
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).Inherited peripheral neuropathies.Demyelinating prenatal and infantile developmental neuropathies.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.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.[Myology and ethnic minorities: all roads lead to the Roma].Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Charcot-Marie-Tooth disease type 4C in Japan: report of a case.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
P2860
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P2860
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@ast
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@en
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@nl
type
label
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@ast
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@en
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@nl
prefLabel
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@ast
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@en
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@nl
P2093
P356
P1476
A novel Gypsy founder mutation ...... ripheral neuropathy phenotypes
@en
P2093
D Angelicheva
D Chandler
L Kalaydjieva
P356
10.1136/JMG.2005.034132
P407
P577
2005-12-01T00:00:00Z