Huizing, M <br/><br/>
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.  [electronic resource] 

 -  Journal of medical genetics  Dec 2009 
 - 803-10 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2008.065961  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Base Sequence<br/>Blotting, Northern<br/>DNA--chemistry<br/>Female<br/>Genetic Variation<br/>Hermanski-Pudlak Syndrome--genetics<br/>Humans<br/>Immunohistochemistry<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Melanosomes--genetics<br/>Middle Aged<br/>Molecular Sequence Data<br/>Polymerase Chain Reaction<br/>Polymorphism, Single Nucleotide<br/>Young Adult