Substantial narrowing of the Niemann–Pick C candidate interval by yeast artificial chromosome complementation

Niemann–Pick disease type C (NP-C) is an autosomal recessive lipidosis linked to chromosome 18q11–12, characterized by lysosomal accumulation of unesterified cholesterol and delayed induction of cholesterol-mediated homeostatic responses. This cellular phenotype is identifiable cytologically by fili...

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Bibliografski detalji
Glavni autori: Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, Coleman, Katherine G., Cooney, Adele M., Comly, Marcy E., Fandino, Laura, Roff, Calvin, Tagle, Danilo A., Pavan, William J., Pentchev, Peter G., Rosenfeld, Melissa A.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 1997
Teme:
Biological Sciences
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC23829/
https://ncbi.nlm.nih.gov/pubmed/9207099
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