Genetic analyses of Vietnamese patients with oculocutaneous albinism

Background Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. Many types of OCA were observed based on the mutation in different causing genes relating to albinism. OCA...

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Veröffentlicht in:	Journal of clinical laboratory analysis 2022-09, Vol.36 (9), p.e24625-n/a
Hauptverfasser:	Thuong, Ma Thi Huyen, Anh, Luong Thi Lan, Nhung, Vu Phuong, Ngoc, Tran Thi Bich, Lan, Hoang Thu, Phuong, Doan Kim, Ha, Nguyen Hai, Hai, Nong, Ton, Nguyen Dang
Format:	Artikel
Sprache:	eng
Schlagworte:	Albinism Astigmatism Families & family life Genes Genetic analysis Genetic counseling Genomes Genomics HPS1 Light Melanin Melanocytes Missense mutation Mutation OCA2 oculocutaneous albinism Patients Pigmentation Skin Skin diseases Strabismus TYR TYR gene vietnamese WES
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