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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees for mutations in G4.5 and have identified...

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Detalhes bibliográficos
Main Authors: Johnston, J, Kelley, R I, Feigenbaum, A, Cox, G F, Iyer, G S, Funanage, V L, Proujansky, R
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716030/
https://ncbi.nlm.nih.gov/pubmed/9345098
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