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Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism
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 ba...
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| Udgivet i: | PLoS One |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4412409/ https://ncbi.nlm.nih.gov/pubmed/25919014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0125651 |
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