Delineating the genetic heterogeneity of OCA in Hungarian patients

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 OCA forms...

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Detalhes bibliográficos
Publicado no:Eur J Med Res
Main Authors: Fábos, Beáta, Farkas, Katalin, Tóth, Lola, Sulák, Adrienn, Tripolszki, Kornélia, Tihanyi, Mariann, Németh, Réka, Vas, Krisztina, Csoma, Zsanett, Kemény, Lajos, Széll, Márta, Nagy, Nikoletta
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477306/
https://ncbi.nlm.nih.gov/pubmed/28629449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40001-017-0262-0
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