Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18

BACKGROUND: Bone mineral density quantitative trait locus 18 (BMND18, OMIM #300910) is a type of early-onset osteogenesis imperfecta (OI) caused by loss-of-function mutations in the PLS3 gene, which encodes plastin-3, a key protein in the formation of actin bundles throughout the cytoskeleton. Here,...

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Detalles Bibliográficos
Autores principales: Chen, Ting, Wu, Haiying, Zhang, Chenxi, Feng, Jiarong, Chen, Linqi, Xie, Rongrong, Wang, Fengyun, Chen, Xiuli, Zhou, Huiting, Sun, Hui, Xiao, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204236/
https://www.ncbi.nlm.nih.gov/pubmed/30405713
http://dx.doi.org/10.1155/2018/8953217

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