Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma

SIMPLE SUMMARY: Some families with hereditary retinoblastoma exhibit mild phenotype with low penetrance and variable expressivity, including complete absence of clinical signs of the disease in some carriers of the germline RB1 mutation. The identification of low-penetrance mutations in the RB1 gene...

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Detalles Bibliográficos
Autores principales: Alekseeva, Ekaterina A., Babenko, Olga V., Kozlova, Valentina M., Ushakova, Tatiana L., Kazubskaya, Tatiana P., Nemtsova, Marina V., Chesnokova, Galina G., Mikhaylenko, Dmitry S., Bure, Irina V., Kalinkin, Alexey I., Kuznetsova, Ekaterina B., Tanas, Alexander S., Kutsev, Sergey I., Zaletaev, Dmitry V., Strelnikov, Vladimir V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534066/
https://www.ncbi.nlm.nih.gov/pubmed/34680218
http://dx.doi.org/10.3390/cancers13205068

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