Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

© 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both...

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Main Authors:	Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
格式:	雜誌
出版:	2018
主題:	Biochemistry, Genetics and Molecular Biology Medicine
在線閱讀:	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85014340978&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/56788
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