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Article

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

Human mutation - 1 Jan 1999

Lund A M, Aström E, Söderhäll S, Schwartz M, Skovby F

Abstract excerpt

Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen I. We report four novel glycine substitutions, one in the a1 (I) chain of collagen I (G688S) and three in the a2 (I) chain (G241D, G247C, G883V). In each of two families (G241D and G883V), we found parental mosaicism for the substitution explaining recurrence and intrafamilial variability of OI. The G247C and the G883V are the most...

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Source

Identifiers

PMID: 10408781
DOI: 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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