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Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid-storage disorder usually characterized by hepatosplenomegaly and severe progressive neurological dysfunction, resulting from mutations affecting either the NPC1 gene (in 95% of the patients) or the yet-to-be-identified NPC2 gene. Our...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American Society of Human Genetics
1999
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288284/ https://ncbi.nlm.nih.gov/pubmed/10521297 |
| Oznake: |
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