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...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Hildreth, Amber, Wigby, Kristen, Chowdhury, Shimul, Nahas, Shareef, Barea, Jaime, Ordonez, Paulina, Batalov, Sergey, Dimmock, David, Kingsmore, Stephen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2017
Konular:
Rapid Communication
Online Erişim: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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