A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations...
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 patients carrying GDAP1 mutations are heterogeneous, making it diffi...
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Full title
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
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TN_cdi_doaj_primary_oai_doaj_org_article_12c277d006084025bd0cd84e10d931d6
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_12c277d006084025bd0cd84e10d931d6
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-6-87
