A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

BACKGROUND: The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patien...

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Bibliografske podrobnosti
Main Authors: Cassereau, Julien, Chevrollier, Arnaud, Bonneau, Dominique, Verny, Christophe, Procaccio, Vincent, Reynier, Pascal, Ferré, Marc
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2011
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3313893/
https://ncbi.nlm.nih.gov/pubmed/22200116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-87
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