Morgan, Neil V <br/><br/>
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).  [electronic resource] 

 -  American journal of human genetics  Jan 2006 
 - 160-6 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/499338  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphate--metabolism<br/>Adolescent<br/>Adult<br/>Carrier Proteins--genetics<br/>Cell Line, Tumor<br/>Child<br/>Chromosomes, Human, Pair 19--genetics<br/>Epidermis--ultrastructure<br/>Eye--pathology<br/>Female<br/>Frameshift Mutation--genetics<br/>Hermanski-Pudlak Syndrome--genetics<br/>Humans<br/>Male<br/>Microscopy, Electron, Transmission<br/>Oligonucleotide Array Sequence Analysis<br/>Pakistan<br/>Pedigree<br/>Phenotype<br/>Platelet Aggregation--genetics<br/>Polymorphism, Single Nucleotide