title: Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D024042:Collagen Type I / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D024042:Collagen Type I; D005819:Genetic Markers