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The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations

We have collected demographic and/or mutation information on a worldwide sample of 394 patients with type B Niemann-Pick disease (NPD). The disorder is panethnic, with the highest incidence occurring in individuals of Turkish, Arabic, and North African descent. Only five of the 394 patients were Ash...

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Detalhes bibliográficos
Main Authors: Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC378582/
https://ncbi.nlm.nih.gov/pubmed/12369017
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