Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing
Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigmen...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | fas |
| Published: |
Arak Medical University
2025-03-01
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| Series: | Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk |
| Subjects: | |
| Online Access: | http://jams.arakmu.ac.ir/article-1-7912-en.pdf |
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