Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.
Nicholls
A C
AC
Valler
D
D
Wallis
S
S
Pope
F M
FM
D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011347:Procollagen / Q000235:genetics*; D017384:Sequence Deletion
D011347:Procollagen; D003094:Collagen; D004247:DNA