Article
Genomic structure of the mouse Ap3b1 gene in normal and pearl mice.
Genomics - 1 Nov 2000
Feng L, Rigatti B W, Novak E K, Gorin M B, Swank R T
Abstract excerpt
The mouse hypopigmentation mutant pearl is an established model for Hermansky-Pudlak syndrome (HPS), a genetically heterogenous disease with misregulation of the biogenesis/function of melanosomes, lysosomes, and platelet dense granules. The pearl (Ap3b1) gene encodes the beta3A subunit of the AP-3 adaptor complex, which regulates vesicular trafficking. The genomic structure of the normal Ap3b1 gene includes 25...
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