Genome sequencing in a case of Niemann–Pick type C

Genome sequencing in a case of Niemann–Pick type C

Adult-onset Niemann–Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in jud...

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Bibliographic Details
Main Authors: Dougherty, Max, Lazar, John, Klein, Jason C., Diaz, Karina, Gobillot, Theodore, Grunblatt, Eli, Hasle, Nicholas, Lawrence, Daniel, Maurano, Megan, Nelson, Maria, Olson, Gregory, Srivatsan, Sanjay, Shendure, Jay, Keene, C. Dirk, Bird, Thomas, Horwitz, Marshall S., Marshall, Desiree A.
Format: Online
Language:English
Published: Cold Spring Harbor Laboratory Press 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111003/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111003/

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