Summary
“Molecular Determinants of Pigmentation (mDoP)” study aims to identify and characterize new genes and proteins essential for pigmentation development, melanosomes transportation, function and maintenance in humans. Pigmentation disorders (often referred as albinism) represents one of the major causes of childhood vision impairment in United States. Pigmentation disorders can manifest in syndromic, e.g., Hermansky-Pudlak syndrome (HPS), Griscelli syndrome (GS) and nonsyndromic, e.g., Oculocutaneous albinism (OCA), forms under a variety of inheritance models. At present, mutations in at least ei
