Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships

Somatic mutational mosaicism is a common feature of monogenic genetic disorders, particularly in diseases such as retinoblastoma, with high rates of de novo mutations. The detection and quantification of mosaicism is particularly relevant in these diseases, since it has important implications for ge...

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Veröffentlicht in:Journal of human genetics 2020-01, Vol.65 (2), p.165-174
Hauptverfasser: Rodríguez-Martín, Carlos, Robledo, Cristina, Gómez-Mariano, Gema, Monzón, Sara, Sastre, Ana, Abelairas, Jose, Sábado, Constantino, Martín-Begué, Nieves, Ferreres, Joan Carles, Fernández-Teijeiro, Ana, González-Campora, Ricardo, Rios-Moreno, María José, Zaballos, Ángel, Cuesta, Isabel, Martínez-Delgado, Beatriz, Posada, Manuel, Alonso, Javier
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Sprache:eng
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