Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain

Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3′ portion of NPC1, the gene associated with most cases of the disease. SSCP analyses wer...

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Xehetasun bibliografikoak
Egile Nagusiak: Greer, W. L., Dobson, M. J., Girouard, G. S., Byers, D. M., Riddell, D. C., Neumann, P. E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 1999
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288277/
https://ncbi.nlm.nih.gov/pubmed/10521290
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