The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
about
Sh3tc2 deficiency affects neuregulin-1/ErbB signalingMissense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.Hereditary motor and sensory neuropathy Lom type in a Serbian familyTwo founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian populationCharcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.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.A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.Vestibular impairment in 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
Q28511191-AE7A7741-548A-4873-93D2-FF9A84052D9BQ30157131-51527B9D-6255-44C9-9FB8-CF73385141ACQ33331894-D6D25247-A9F6-49CE-B74F-3E6D480E821BQ33807658-3AF6F690-7BD2-4466-AE60-67FFE26ADFA8Q35673470-671A2954-922B-4BE8-AC12-9BEBFE10BB64Q37251629-80ACB128-A70A-4CA0-B2ED-93857FCDAE77Q38022624-6BABC714-1122-43C2-9341-9D74F55DB58DQ38115571-C135238F-2DF6-40B5-9B5E-0E9E1F6A228EQ41381963-8F118FB3-C289-44E0-91A6-499D31F391CFQ42029600-0A00C6C1-5D85-4F48-B0BE-C81806A29D76Q43830039-A3348A4F-3AD2-4F97-8272-4FF0768120F7Q44788489-61362518-8523-4759-81DB-7A4ABC636F6AQ45084817-AE15F540-5C54-4F9C-862C-EE0B3EEF0A96Q47871780-CF3AA132-4AA8-4D79-B6BB-30E68D94BAFCQ47961903-74BD39F1-25B9-4956-8266-8AB58A605A89Q50455228-385E30DB-691A-485D-BF9B-777D9FC1BA19Q50477345-EB44131C-607D-4730-B230-2B1D55DA4B8EQ52668424-F934F352-CD57-46A0-A25C-ECA4999FCB21Q54483657-372C2B67-7E8C-45DC-B7CC-6695C24D49B4
P2860
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@ast
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@en
type
label
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@ast
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@en
prefLabel
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@ast
The p.R1109X mutation in SH3TC ...... ot-Marie-Tooth disease type 4.
@en
P2093
P50
P1433
P1476
The p.R1109X mutation in SH3TC ...... cot-Marie-Tooth disease type 4
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2007.00774.X
P577
2007-04-01T00:00:00Z