نتایج جستجو برای: oculocutaneous albinism 1 a
تعداد نتایج: 14033402 فیلتر نتایج به سال:
Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much 20 out 25 patients, variants explaining their phenotype were identified. The great majority (15/25) had TY...
Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrat...
The house musk shrew Suncus murinus (Insectivora, Soricidae) is referred to as suncus in a laboratory context. Although the capture of albino-like shrews (wild suncus) has been reported previously, albino-like strains have never been established, and the molecular basis of the character has remained elusive. We have established an OCAO mutant strain (oculocutaneous albinism Okinawa), from a wil...
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