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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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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The American Society of Human Genetics
1999
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288277/ https://ncbi.nlm.nih.gov/pubmed/10521290 |
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