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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111003/
https://www.ncbi.nlm.nih.gov/pubmed/27900365
http://dx.doi.org/10.1101/mcs.a001222

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