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 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM03123 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
GM03124 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
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