Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II.
Chih-Ping
CP
Chen
Yi-Ning
YN
Su
Fang-Yu
FY
Hung
Schu-Rern
SR
Chern
Jun-Wei
JW
Su
Wayseen
W
Wang
D000328:Adult; D024042:Collagen Type I / Q000235:genetics*; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007438:Introns; D059785:Karyotype; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D017384:Sequence Deletion; D016216:Ultrasonography, Prenatal
D024042:Collagen Type I