Publication

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K, NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet105:10-6 1999
PubMed ID: 10480349

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03123Female9 YR451probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM03124Female9 YR451probandNIEMANN-PICK DISEASE, TYPE C1; NPC1