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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Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: National Academy of Sciences 1997
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC23829/
https://ncbi.nlm.nih.gov/pubmed/9207099
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