Coat colors are determined by melanin (eumelanin and pheomelanin). Melanin is
synthesized in melanocytes and accumulates in special organelles, melanosomes, which …

In metazoans, lysosomes are the center for the degradation of macromolecules and play a
key role in a variety of cellular processes, such as autophagy, exocytosis and membrane …

Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by
oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules …

We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding
diathesis, neutropenia, and history of recurrent infections prompted consideration of the …

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive condition characterized by a
bleeding diathesis and hypopigmentation of the skin, hair, and eyes. Some HPS patients …

Carmona‐Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M.
Novel mutations in the HPS1 gene among Puerto Rican patients. Hermansky‐Pudlak …

We report a child with Hermansky‐Pudlak Syndrome (HPS) and chronic kidney disease
(stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15 …

In our laboratory, a single autosomal recessive mutation in a phenotype similar to ruby-eye
(ru/Hps6ru) or ruby-eye 2 (ru2/Hps5ru2) spontaneously occurred in siblings of …

Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by
oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules …

FreiDok plus - Molekulargenetische Untersuchungen von Patienten mit Hermansky-Pudlak
Syndrom FreiDok plus Universitätsbibliothek Freiburg de | en : OA Logo {{data.value}} …