A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Item

http://www.wikidata.org/entity/Q38100659

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

@en

type

Item

label

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

@en

prefLabel

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

@en

P1476

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

@en

P2093

Alice B Schindler

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

Carly E Siskind

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

Corrine O Smith

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

Joline C Dalton

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

Karen M Krajewski

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

Seema Panchal

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

Shawna M E Feely

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

P2860

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

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

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

P304

422-436

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

P31

scholarly article

P356

10.1007/S10897-013-9584-4

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

P433

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

P478

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

P577

2013-04-21T00:00:00Z

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

P698

23604902

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