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Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling
Heterozygous missense mutations in IHH result in Brachydactyly type A1 (BDA1; OMIM 112500), a condition characterized by the shortening of digits due to hypoplasia/aplasia of the middle phalanx. Indian Hedgehog signaling regulates the proliferation and differentiation of chondrocytes and is essentia...
Autores principales: | Guo, Shengzhen, Zhou, Jian, Gao, Bo, Hu, Jianxin, Wang, Hongsheng, Meng, Junwei, Zhao, Xinzhi, Ma, Gang, Lin, Chuwen, Xiao, Yue, Tang, Wei, Zhu, Xuming, Cheah, Kathryn S.E., Feng, Guoying, Chan, Danny, He, Lin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SP Versita
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275863/ https://www.ncbi.nlm.nih.gov/pubmed/20024692 http://dx.doi.org/10.2478/s11658-009-0040-2 |
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