Akin Usta Dilay Karademir Eylem Sen Selcuk Yazici Ertan Adali Erkan Erdem Meric Karacan
10.11604/pamj.2017.27.198.12295
Pan Afr Med J
2017 Jul 14;27:198.
col1a2 gene osteogenesis ιmprefecta malecular analysis skeletal dysplasia
CC BY
https://pubmed.ncbi.nlm.nih.gov/28904723/
Collagen Type I / genetics Diphosphonates / administration & dosage Femur / abnormalities Osteogenesis Imperfecta / genetics
Collagen Type I / genetics Diphosphonates / administration & dosage Femur / abnormalities Osteogenesis Imperfecta / genetics Case Reports Adult Exons Female Follow-Up Studies Humans Infant, Newborn Mutation Osteogenesis Imperfecta / drug therapy Pregnancy Collagen Type I Diphosphonates Osteogenesis Imperfecta, Type IV
PMC5579436
28904723
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene
2017