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Genetic and laboratory diagnostic approach in Niemann Pick disease type C
Niemann Pick disease type C (NP-C) is a rare autosomal recessive disorder that results from mutations in either the NPC1 or the NPC2 gene. The estimated incidence of NP-C is 1 in 120,000 live births, although the frequency of cases is higher in some isolated populations. More than 350 different NPC1...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4141153/ https://ncbi.nlm.nih.gov/pubmed/25145893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7386-8 |
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