نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

Journal: :Clinical Ophthalmology 2018

Journal: :Medical history 1962
P Froggatt

INTRODUCTION HISTORICAL personages are often alleged to have suffered from certain diseases or disabilities. Sometimes there is good evidence for this, but sometimes when the evidence is examined one wonders how the belief originated. At least three historical characters, and one biblical one, are frequently referred to as albinos. Two of them, Edward the Confessor and Timur, were real people, ...

Journal: :Plant Cell Reports 2013

Journal: :Proceedings of the Royal Society of Medicine 1926

Journal: :British Journal of Ophthalmology 1998

Journal: :Herpetological Bulletin 2019

2015
Yun Wang Zhi Wang Mengping Chen Ning Fan Jie Yang Lu Liu Ying Wang Xuyang Liu

BACKGROUND Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. OBJECTIVE The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. PATIENTS AND METHODS Four non-consangu...

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