Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
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Hereditary sensory neuropathy type IHereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B familyMutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathyAn axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15qInherited peripheral neuropathies.Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.Fly model causes neurological rethink.Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.Reply to Vance et al.
P2860
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P2860
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
description
1995 nî lūn-bûn
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1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
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1995年の論文
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1995年論文
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1995年論文
@zh-hant
1995年論文
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1995年論文
@zh-mo
1995年論文
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1995年论文
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name
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@ast
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@en
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@nl
type
label
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@ast
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@en
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@nl
prefLabel
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@ast
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@en
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@nl
P2093
P2860
P1476
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
@en
P2093
J Ivanovich
J L Elliott
N J Scavarda
P J Goodfellow
P J Moolsintong
P2860
P304
P407
P577
1995-10-01T00:00:00Z