NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

BACKGROUND: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photophobia, and strabismus. OCA type 1 (OCA1) and type 2 (OCA2) a...

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Detalles Bibliográficos
Autores principales: Xiao, Yuanyuan, Zhou, Cong, Xie, Hanbing, Huang, Shuang, Wang, Jing, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055679/
https://www.ncbi.nlm.nih.gov/pubmed/35488210
http://dx.doi.org/10.1186/s12864-022-08597-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055679/
https://www.ncbi.nlm.nih.gov/pubmed/35488210
http://dx.doi.org/10.1186/s12864-022-08597-3

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