Global ETD Search
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Showing 1 to 3 of 3 for “"oculocutaneous albinism"”.
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The cellular basis of the Southern African forms of rufous & tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism is a congenital heritable disorder characterised by hypopigmentation of the eyes, hair and skin, together with visual acuity. Ten albinism have been photophobia, nystagmus and decreased different forms of oculocutaneous described. Of these, the tyrosinasepositive and rufous …
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Identification of the TPC2 interactome reveals TSPAN10 and OCA7 as key players in the biogenesis of melanosomes
… function lead to pigmentation diseases such as oculocutaneous albinism. Melanosome biogenesis is a complex process requiring ubiquitous membrane trafficking machinery to be repurposed for the differentiation of melanosomes from other endosomal compartments and specific delivery of melanosome …
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Experiences perceptions and understanding of mothers of children living with albinism in Malawi: a qualitative descriptive study
Background: Albinism affects approximately 1 in 17,000 individuals globally with the highest prevalence in SubSaharan Africa with an estimation of 1 in 2000 - 5000 live births and 1 in 2000 live births in Malawi. The total number of people living with albinism in Malawi is estimated to be 7000 - …