TY  - GEN
AU  - Pruchno,C J
AU  - Cohn,D H
AU  - Wallis,G A
AU  - Willing,M C
AU  - Starman,B J
AU  - Zhang,X M
AU  - Byers,P H
TI  - Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen
SN  - 0340-6717
PY  - 1991///0702
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Collagen
KW  - genetics
KW  - DNA
KW  - Dinucleoside Phosphates
KW  - Female
KW  - Genes, Dominant
KW  - Genes, Lethal
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteogenesis Imperfecta
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1007/BF01213088
ER  -