Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

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 B...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986602/
https://ncbi.nlm.nih.gov/pubmed/19277064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.18
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