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Germline mutation in the TP53 gene in uveal melanoma

We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cas...

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Detalles Bibliográficos
Autores principales: Hajkova, Nikola, Hojny, Jan, Nemejcova, Kristyna, Dundr, Pavel, Ulrych, Jan, Jirsova, Katerina, Glezgova, Johana, Ticha, Ivana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5955881/
https://www.ncbi.nlm.nih.gov/pubmed/29769598
http://dx.doi.org/10.1038/s41598-018-26040-0