Delineating the genetic heterogeneity of OCA in Hungarian patients
Abstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated O...
Main Authors: | Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2017-06-01
|
Series: | European Journal of Medical Research |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s40001-017-0262-0 |
Similar Items
-
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
by: Qi Yang, et al.
Published: (2019-06-01) -
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
by: Ye Lin, et al.
Published: (2019-07-01) -
Genetic Causes of Oculocutaneous Albinism in Pakistani Population
by: Zureesha Sajid, et al.
Published: (2021-03-01) -
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism
by: Huang, S., et al.
Published: (2022) -
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W
by: Jackson Gao, et al.
Published: (2017-04-01)