An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

BACKGROUND: Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the endosomes and lysosomes of affected individuals. Pat...

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Detalles Bibliográficos
Autores principales: Cervera-Gaviria, Marivi, Alcántara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Moyers-Pérez, Paola, Legorreta-Ramírez, Blanca Gabriela Lizet, Barrera-Carmona, Nancy, Cervera-Gaviria, Jaime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994172/
https://www.ncbi.nlm.nih.gov/pubmed/27549128
http://dx.doi.org/10.1186/s12883-016-0649-5

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