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PMID: 15805163 Published · ppublish English Letter Research Support, Non-U.S. Gov't

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

Journal of medical genetics ·Vol. 42 ·No. 4 ·2005-04-00 ·Pages 358-65

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F

Abstract

暂无摘要

MeSH Terms

Charcot-Marie-Tooth Disease/genetics Chromosome Aberrations Cohort Studies DNA Mutational Analysis Female Founder Effect Genetic Testing/methods Genetic Variation Haplotypes Humans Inheritance Patterns/genetics Male Nerve Tissue Proteins/genetics Pedigree Phenotype Proteins/genetics Spain

Chemicals

GDAP protein Nerve Tissue Proteins Proteins

Authors & Affiliations

13 authors, click to expand affiliations / ORCID

Claramunt R

Pedrola L

Sevilla T

López de Munain A

Berciano J

Cuesta A

Sánchez-Navarro B

Millán J M

Saifi G M

Lupski J R

Vílchez J J

Espinós C

Palau F

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2004.022178

Published

2005-04-00

Pages

358-65

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1736030

Subset

External Links

PubMed source DOI: 10.1136/jmg.2004.022178 PMC Full Text View journal details

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

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