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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
Niemann–Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. Although characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunc...
Zapisane w:
| Wydane w: | Cold Spring Harb Mol Case Stud |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Cold Spring Harbor Laboratory Press
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5593156/ https://ncbi.nlm.nih.gov/pubmed/28550066 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001966 |
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