Article
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nature genetics - 1 Feb 2006
Smith Ursula M, Consugar Mark, Tee Louise J, McKee Brandy M, Maina Esther N, Whelan Shelly, Morgan Neil V, Goranson Erin, Gissen Paul, Lilliquist Stacie, Aligianis Irene A, Ward Christopher J, Pasha Shanaz, Punyashthiti Rachaneekorn, Malik Sharif Saghira, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, McKeown Carole, Bucourt Martine, Miller Caroline A, Cox Phillip, Algazali Lihadh, Trembath Richard C, Torres Vicente E, Attie-Bitach Tania, Kelly Deirdre A, Maher Eamonn R, Gattone Vincent H, Harris Peter C, Johnson Colin A
Abstract excerpt
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and cysts and polydactyly. MKS is genetically heterogeneous, with three loci mapped: MKS1, 17q21-24 (ref. 4); MKS2, 11q13 (ref. 5) and MKS3 (ref. 6). We have refined MKS3...
Topics
- Abnormalities, Multiple
- Animals
- Base Sequence
- DNA Mutational Analysis
- Disease Models, Animal
- Exons
- Female