A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2
Open Access
- 31 July 1996
- journal article
- Published by Elsevier in Genetic Analysis: Biomolecular Engineering
- Vol. 13 (2) , 43-44
- https://doi.org/10.1016/1050-3862(95)00148-4
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- The mutational spectrum in Waardenburg syndromeHuman Molecular Genetics, 1995
- Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literatureAmerican Journal of Medical Genetics, 1995
- microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.Genes & Development, 1994
- Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) geneNature Genetics, 1994
- A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1Nature Genetics, 1994
- An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndromeNature, 1992