Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

© 2018 The Author(s) under exclusive licence to The Japan Society of Human Genetics. We report a Thai father (patient 1) and his daughter (patient 2) affected with osteogenesis imperfecta type IV and dentinogenesis imperfecta. Both were heterozygous for the c.1451G>A (p.Gly484Glu) mutation in COL...

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Bibliographic Details
Main Authors: Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Worrachet Intachai, Chumpol Ngamphiw, Sissades Tongsima, Prapai Dejkhamron
Format: Journal
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231
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Institution: Chiang Mai University

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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231

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