Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypom...

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Detalles Bibliográficos
Autores principales: Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter, Sturm, Richard A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510969/
https://www.ncbi.nlm.nih.gov/pubmed/32966289
http://dx.doi.org/10.1371/journal.pone.0238529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510969/
https://www.ncbi.nlm.nih.gov/pubmed/32966289
http://dx.doi.org/10.1371/journal.pone.0238529

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