Delineating the genetic heterogeneity of OCA in Hungarian patients

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...

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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:
Oculocutaneous albinism
Concomitant analysis
TYR gene
SLC45A2 gene
OCA2 gene
Online Access:http://link.springer.com/article/10.1186/s40001-017-0262-0

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http://link.springer.com/article/10.1186/s40001-017-0262-0

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