Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2002
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC378582/
https://ncbi.nlm.nih.gov/pubmed/12369017
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!