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Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

BACKGROUND: Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbid...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Lin, Ye, Chen, Xihui, Yang, Ying, Che, Fengyu, Zhang, Sijia, Yuan, Lijuan, Wu, Yuanming
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625147/
https://ncbi.nlm.nih.gov/pubmed/31199599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.687
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