p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

BACKGROUND: Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. It is the first recorded disorder of the autosomal dominant Mendelian trait. Indian hedgehog (IHH) gene is closely associated wi...

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Detalles Bibliográficos
Autores principales: Shen, Lu, Ma, Gang, Shi, Ye, Ruan, Yunfeng, Yang, Xuhan, Wu, Xi, Xiong, Yuyu, Wan, Chunling, Yang, Chao, Cai, Lei, Xiong, Likuan, Gong, Xueli, He, Lin, Qin, Shengying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335781/
https://www.ncbi.nlm.nih.gov/pubmed/30651074
http://dx.doi.org/10.1186/s12863-018-0697-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335781/
https://www.ncbi.nlm.nih.gov/pubmed/30651074
http://dx.doi.org/10.1186/s12863-018-0697-5

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