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References in periodicals archive ?
In this presented investigative study, we ascertained four patients for mutation analysis of underlying gene defect causing oculocutaneous albinism. The study was approved by the ethical review board of Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.
Oculocutaneous albinism (OCA) is a disordered condition of melanin pigment biosynthesis in melanocytes.
Oculocutaneous albinism, photophobia, rotatory nistagmus and decreased visual acuity (due to albinism) are observed as clinical findings.
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
One student each was found to have corneal opacity (with a rejected graft) and oculocutaneous albinism (see Table 4).
Eumelanin and phaeomelanin contents in hairs of healthy Japanese patients with oculocutaneous albinism, and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine of oculocutaneous albinism.
Kelly has oculocutaneous albinism, a condition with affects the pigment in her hair, skin and eyes.
Kelly, from Bangor, Northern Ireland, has oculocutaneous albinism, a rare condition which affects the pigment in the eyes, hair and skin.
Kelly, from Bangor in Co Down, has oculocutaneous albinism - a rare condition which affects the pigment in eyes, hair and skin.
The most common type of albinism is called oculocutaneous albinism, meaning the hair, skin and eyes are all without pigment.
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