Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

BACKGROUND: Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However, the in...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Yi, Sheng, Li, Mengting, Xie, Bobo, Luo, Jinsi, Wang, Jin, Rong, Xiuliang, Zhang, Qinle, Qin, Zailong, Hang, Limei, Feng, Shihan, Fan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567650/
https://www.ncbi.nlm.nih.gov/pubmed/31196117
http://dx.doi.org/10.1186/s12881-019-0842-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567650/
https://www.ncbi.nlm.nih.gov/pubmed/31196117
http://dx.doi.org/10.1186/s12881-019-0842-7

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