Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. - Wikidata - wikimedia - TriplyDB

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q37057055

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TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂ Differential Sox10 genomic occupancy in myelinating glia.Intermediate Charcot-Marie-Tooth disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature

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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q37057055

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 12 July 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

@en

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

@nl

type

label

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

@en

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

@nl

prefLabel

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

@en

Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

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1750-1172-8-104

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Orphanet Journal of Rare Diseases

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Mutations in the PLEKHG5 gene ...... e Charcot-Marie-Tooth disease.

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Bo Ram Yoon

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Byung-Ok Choi

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Heasoo Koo

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Hyeon Jin Kim

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Jeong Hyun Yoo

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Jin-Mo Park

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Ki Wha Chung

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Minhwa Park

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Sang Beom Kim

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Ye Jin Kim

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Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

The DH and PH domains of Trio coordinately engage Rho GTPases for their efficient activation

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

Identification and characterization of a spinal muscular atrophy-determining gene

Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.

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