Anikster, Y <br/><br/>
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.  [electronic resource] 

 -  Nature genetics  Aug 2001 
 - 376-80 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng576  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Blotting, Northern<br/>Carrier Proteins--genetics<br/>Chromosomes, Human, Pair 3--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Founder Effect<br/>Genetic Carrier Screening<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Hermanski-Pudlak Syndrome--epidemiology<br/>Homozygote<br/>Humans<br/>Intracellular Signaling Peptides and Proteins<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Organ Specificity<br/>Pedigree<br/>Phenotype<br/>Physical Chromosome Mapping<br/>Puerto Rico--epidemiology<br/>Sequence Deletion