Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4

BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membr...

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Detalles Bibliográficos
Autores principales: Tóth, Lola, Fábos, Beáta, Farkas, Katalin, Sulák, Adrienn, Tripolszki, Kornélia, Széll, Márta, Nagy, Nikoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353789/
https://www.ncbi.nlm.nih.gov/pubmed/28298193
http://dx.doi.org/10.1186/s12881-017-0386-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353789/
https://www.ncbi.nlm.nih.gov/pubmed/28298193
http://dx.doi.org/10.1186/s12881-017-0386-7

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