HPS Gene Mutations in Hermansky-Pudlak Syndrome
- 1 February 1999
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 64 (2) , 658-659
- https://doi.org/10.1086/302257
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical CorrelationsMolecular Genetics and Metabolism, 1998
- Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus HeterogeneityAmerican Journal of Human Genetics, 1998
- Recommendations for a nomenclature system for human gene mutationsHuman Mutation, 1998
- Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organellesNature Genetics, 1996