Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Autor: | Indo, Yasuhiro, Mardy, Sek, Miura, Yuichi, Moosa, Allie, Ismail, Essam A.R., Toscano, Ennio, Andria, Generoso, Pavone, Vito, Brown, Deborah L., Brooks, Alice, Endo, Fumio, Matsuda, Ichiro |
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Zdroj: | Human Mutation; Oct2001, Vol. 18 Issue 4, p308-318, 11p |
Databáze: | Complementary Index |
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