Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation
✍ Scribed by Ulrike Schwarze; Barbra J. Starman; Peter H. Byers
- Book ID
- 117852940
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 461 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302512
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in
Communicated by Alec J. Jefieys An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures. Analysis of the collagens pro