Article
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.
American journal of human genetics - 1 Oct 1995
Wildenberg S C, Oetting W S, Almodóvar C, Krumwiede M, White J G, King R A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that affects pigment production and platelet function and causes the deposition of a ceroid-like material in various tissues. Variability in the phenotype and the presence of several potential mouse models suggest that HPS may be a heterogeneous disorder. In order to identify a gene responsible for HPS, we collected blood samples from a relatively...
Topics
- Albinism, Oculocutaneous
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- DNA
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Lod Score
- Molecular Sequence Data