Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families. - Wikidata - wikimedia - TriplyDB

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

http://www.wikidata.org/entity/Q32186771

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Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

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P2860

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

http://www.wikidata.org/entity/Q32186771

description

2016 nî lūn-bûn

@nan

2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2016年の論文

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2016年論文

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2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

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2016年论文

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name

Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

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Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

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type

label

Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

@ast

Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

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prefLabel

Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

@ast

Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

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Clinical Genetics

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Phenotypes and cellular effect ...... t of 226 Chinese CMT families.

@en

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B S Tang

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K Xia

http://www.w3.org/2001/XMLSchema#string

L Liu

http://www.w3.org/2001/XMLSchema#string

R X Zhang

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S H X Huang

http://www.w3.org/2001/XMLSchema#string

X B Li

http://www.w3.org/2001/XMLSchema#string

X H Zi

http://www.w3.org/2001/XMLSchema#string

X Zhao

http://www.w3.org/2001/XMLSchema#string

Y Z Xie

http://www.w3.org/2001/XMLSchema#string

Z H M Hu

http://www.w3.org/2001/XMLSchema#string

P2860

Connexin mutations in X-linked Charcot-Marie-Tooth disease

Genetic diseases and gene knockouts reveal diverse connexin functions.

X-linked Charcot-Marie-Tooth disease and connexin32.

X-linked dominant hereditary motor and sensory neuropathy.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.

Gap junction communication in myelinating glia

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Functional gap junctions in the schwann cell myelin sheath.

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881-891

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scholarly article

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10.1111/CGE.12913

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6

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91

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2016-11-02T00:00:00Z

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27804109

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