A carregar...
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...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
1999
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288277/ https://ncbi.nlm.nih.gov/pubmed/10521290 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|