Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Ma Thi Huyen ThuongLuong Thi Lan AnhVu Phuong NhungTran Thi Bich NgocHoang Thu LanDoan Kim PhuongNguyen Hai HaNong Van HaiNguyen Dang Ton

Published in: Journal of clinical laboratory analysis (2022)

To our best knowledge, this is the first case with a novel homozygous missense mutation (c.115 T > C, p.W39R) in the TYR gene. This study provides a broader spectrum of mutations linked to the oculocutaneous albinism, an additional scientific basis for diagnosis, and appropriate genetic counseling for risk couples.

Keyphrases

genome wide
copy number
healthcare
intellectual disability
gene expression
transcription factor
human immunodeficiency virus
antiretroviral therapy