A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.
Istituto di Biologia e Genetica, Università di Verona, Italy.
F
F
Zolezzi
A
A
Forlino
M
M
Mottes
M
M
Valli
A
A
Sensi
E
E
Calzolari
P F
PF
Pignatti
G
G
Cetta
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics*
D012333:RNA, Messenger; D003094:Collagen