Article
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
European journal of human genetics : EJHG - 1 Sept 2009
Byrnes Ashley M, Racacho Lemuel, Grimsey Allison, Hudgins Louanne, Kwan Andrea C, Sangalli Michel, Kidd Alexa, Yaron Yuval, Lau Yu-Lung, Nikkel Sarah M, Bulman Dennis E
Abstract excerpt
Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We describe two novel mutations in codons 128 and 130, not previously implicated in BDA1. Furthermore, we identified an independent mutation at codon 131 and we also describe a New Zealand family,...
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