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- W2297616462 abstract "Objective To detect the peculiar mutation in a Chinese family with osteogenesis impefecta. COL1A1 and COL1A2 being analysed. Methods A genome screen was undertaken covering COL1A1 at 17q21-22 and COL1A2 at 7q22.1. The Linkage (Version 5.1) was used for 2-point analysis. DNA sequencing was used to screen and identify the mutation. Results A linkage to the markers on chromosome 17q21-22 was observed. Sequence analysis of COL1A1 revealed a splicing mutation (IVS8-2A＞G) that converted the 3' end of intron 8 from AG to GG. Conclusion This mutation (IVS 8-2A＞G) is novel, and has not yet been registered in the Human Type Ⅰ and Type Ⅲ Collagen Mutations Database." @default.
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- W2297616462 date "2007-02-01" @default.
- W2297616462 modified "2023-09-26" @default.
- W2297616462 title "Novel Splicing Mutation of COL1A1 Gene Causing Osteogenesis Imperfecta Type I in Chinese Pedigree" @default.
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