Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, and is often associated with more severe phenotypes...

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Bibliografiske detaljer
Udgivet i:Front Genet
Main Authors: Li, Shan, Cao, Yixuan, Wang, Han, Li, Lulu, Ren, Xiuzhi, Mi, Huan, Wang, Yanzhou, Guan, Yun, Zhao, Feiyue, Mao, Bin, Yang, Tao, You, Yi, Guan, Xin, Yang, Yujiao, Zhang, Xue, Zhao, Xiuli
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7523636/
https://ncbi.nlm.nih.gov/pubmed/33093841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00984
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