Article
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
Proceedings of the National Academy of Sciences of the United States of America - 25 Aug 2009
Borowiec Maciej, Liew Chong W, Thompson Ryan, Boonyasrisawat Watip, Hu Jiang, Mlynarski Wojciech M, El Khattabi Ilham, Kim Sung-Hoon, Marselli Lorella, Rich Stephen S, Krolewski Andrzej S, Bonner-Weir Susan, Sharma Arun, Sale Michele, Mychaleckyj Josyf C, Kulkarni Rohit N, Doria Alessandro
Abstract excerpt
Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by an autosomal pattern of inheritance and a young age at onset, often before age 25. MODY is genetically heterogeneous, with 8 distinct MODY genes identified to date and more believed to exist. We resequenced 732 kb of genomic sequence at 8p23 in 6 MODY families unlinked to known MODY genes that showed evidence of linkage at that...
Topics
- Adolescent
- Adult
- Animals
- Blotting, Western
- Cell Line, Tumor
- DNA Mutational Analysis
- Diabetes Mellitus, Type 2
- Family Health
- Female