Cullinane, Andrew R <br/><br/>
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.  [electronic resource] 

 -  Pigment cell & melanoma research  Sep 2012 
 - 584-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural 
<br/><br/><label>ISSN: </label>1755-148X 
<br/><br/><label>Standard No.: </label>10.1111/j.1755-148X.2012.01029.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Child<br/>DNA Mutational Analysis<br/>Genetic Testing<br/>Hermanski-Pudlak Syndrome--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Membrane Glycoproteins--metabolism<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Nerve Tissue Proteins--genetics<br/>Oxidoreductases--metabolism<br/>RNA, Messenger--genetics