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Article

Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.

The Biochemical journal - 15 Nov 1992

Bateman J F, Moeller I, Hannagan M, Chan D, Cole W G

Abstract excerpt

Type I collagen alpha 1(I) glycine to serine substitutions, resulting from G-to-A mutations, were defined in three cases of osteogenesis imperfecta (OI). The Gly substitutions displayed a gradient of phenotypic severity according to the location of the mutation in the collagen triple helix. The most C-terminal of these, Gly565 to Ser, led to the lethal perinatal (type II) form of OI, whereas the more N-terminal...

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Identifiers

PMID: 1445258
DOI: 10.1042/bj2880131
PMCID: PMC1132089

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Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.PMID 1445258Read ↗

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