Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

Item
http://www.wikidata.org/entity/Q28287119
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathiesMutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathySteroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells.High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.Mutation analysis of the MPZ and PMP22 genes in Croatian patients.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.U1 snRNA mis-binding: a new cause of CMT1B.The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
P2860

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

Item
http://www.wikidata.org/entity/Q28287119
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@ast
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@en
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@nl
type
label
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@ast
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@en
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@nl
prefLabel
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@ast
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@en
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
@nl
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P1433
P1476
Rapid screening of myelin gene ...... d polymorphisms in the P0 gene
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P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698