TY  - GEN
AU  - Stover,M L
AU  - Primorac,D
AU  - Liu,S C
AU  - McKinstry,M B
AU  - Rowe,D W
TI  - Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta
SN  - 0021-9738
PY  - 1993///1112
KW  - Adolescent
KW  - Alleles
KW  - Alternative Splicing
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cell Line
KW  - Collagen
KW  - biosynthesis
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Introns
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Oligodeoxyribonucleotides
KW  - Osteogenesis Imperfecta
KW  - genetics
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
KW  - Skin
N1  - Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1172/JCI116794
ER  -