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Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism

Proximal symphalangism (SYM1) is an autosomal dominant disorder, mainly characterized by bony fusions of the proximal phalanges of the hands and feet. GDF5 and NOG were identified to be responsible for SYM1. We have previously reported on a p.Leu373Arg mutation in the GDF5 proregion present in a Chi...

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Detalles Bibliográficos
Autores principales: Zhang, Xinxin, Xing, Xuesha, Liu, Xing, Hu, Yu, Qu, Shengqiang, Wang, Heyi, Luo, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768378/
https://www.ncbi.nlm.nih.gov/pubmed/29371961
http://dx.doi.org/10.18632/oncotarget.23047