Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1

Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by a partial or a complete absence of pigment in the skin/hair and is also associated with common deve...

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Detalles Bibliográficos
Autores principales: Li, Chaoyi, Chen, Qian, Wu, Junjiao, Ren, Jie, Zhang, Mengfei, Wang, Huakun, Li, Jinchen, Tang, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108984/
https://www.ncbi.nlm.nih.gov/pubmed/35413289
http://dx.doi.org/10.1016/j.jbc.2022.101922

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