Article
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
American journal of human genetics - 1 Dec 1998
McIntosh I, Dreyer S D, Clough M V, Dunston J A, Eyaid W, Roig C M, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole W G, Francomano C A, Lee B
Abstract excerpt
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different...
Topics
- Animals
- DNA
- DNA Mutational Analysis
- Family Health
- Genes, Dominant
- Heteroduplex Analysis
- Homeodomain Proteins
- Humans
- Insulin
- LIM-Homeodomain Proteins
- Mutation
- Nail-Patella Syndrome
- Phenotype
- Promoter Regions, Genetic