Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. [electronic resource]
Producer: 20010816Description: 376-80 p. digitalISSN:- 1061-4036
- Alleles
- Amino Acid Sequence
- Blotting, Northern
- Carrier Proteins -- genetics
- Chromosomes, Human, Pair 3 -- genetics
- DNA Mutational Analysis
- Female
- Founder Effect
- Genetic Carrier Screening
- Genetic Predisposition to Disease
- Genotype
- Hermanski-Pudlak Syndrome -- epidemiology
- Homozygote
- Humans
- Intracellular Signaling Peptides and Proteins
- Male
- Molecular Sequence Data
- Mutation
- Organ Specificity
- Pedigree
- Phenotype
- Physical Chromosome Mapping
- Puerto Rico -- epidemiology
- Sequence Deletion
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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