Publications:

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

Bmc Neurology

Cervera-Gaviria, Marivi M; Alcántara-Ortigoza, Miguel Angel MA; González-Del Angel, Ariadna A; Moyers-Pérez, Paola P; Legorreta-Ramírez, Blanca Gabriela Lizet BG; Barrera-Carmona, Nancy N; Cervera-Gaviria, Jaime J

Publication Date: 2016-08-22

Variant appearance in text: rs1367084

PubMed Link: 27549128

Variant Present in the following documents:

• Main text
• 12883_2016_Article_649.pdf

View BVdb publication page