The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis o...

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Detalhes bibliográficos
Main Authors: Greer, W L, Riddell, D C, Gillan, T L, Girouard, G S, Sparrow, S M, Byers, D M, Dobson, M J, Neumann, P E
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377252/
https://ncbi.nlm.nih.gov/pubmed/9634529
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