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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377252/
https://ncbi.nlm.nih.gov/pubmed/9634529
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker