Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II.
Chih-Ping
CP
Chen
Yi-Ning
YN
Su
Tung-Yao
TY
Chang
Schu-Rern
SR
Chern
Jun-Wei
JW
Su
Wayseen
W
Wang
D000328:Adult; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D017384:Sequence Deletion; D016216:Ultrasonography, Prenatal
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain