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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| 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 |