𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel point mutation in a splice accep
✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB 👁 2 views

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

Splice site mutation causing deletion of
✍ Alan C. Nicholls; Jane Oliver; Seamus McCarron; Gerald B. Winter; F. Michael Pop 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 672 KB

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