Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

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http://www.wikidata.org/entity/Q48104943
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.A comparison of methods for gene dosage analysis in HMSN type 1.Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT CollaborativeClinical genetics in neurological disease.Phenotypic presentation of the Ser63Del MPZ mutationComparative analysis of Schwann cell lines as model systems for myelin gene transcription studies.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Animal models for inherited peripheral neuropathies.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.Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesDéjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene
P2860

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Item
http://www.wikidata.org/entity/Q48104943
description
1993 nî lūn-bûn
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1993年の論文
@ja
1993年学术文章
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1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
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name
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@en
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@nl
type
label
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@en
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@nl
prefLabel
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@en
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
@en
P2093
P304
P31
P356
P433
P478
P577
P698