TY  - GEN
AU  - Rodriguez-Martin, Carlos
AU  - Robledo, Cristina
AU  - Gomez-Mariano, Gema Maria
AU  - Monzon-Fernandez, Sara
AU  - Sastre, Ana
AU  - Abelairas, Jose
AU  - Sabado, Constantino
AU  - Martín-Begué, Nieves
AU  - Ferreres, Joan Carles
AU  - Fernández-Teijeiro, Ana
AU  - González-Campora, Ricardo
AU  - Rios-Moreno, María José
AU  - Zaballos, Ángel
AU  - Cuesta de la Plaza, Isabel
AU  - Martinez-Delgado, Beatriz
AU  - Posada De la Paz, Manuel
AU  - Alonso, Javier
PY  - 2020
DO  - 10.1038/s10038-019-0696-z
SN  - 1434-5161
UR  - http://hdl.handle.net/20.500.12105/11420
AB  - 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...
LA  - eng
PB  - Springer
KW  - Mosaicism
KW  - Cohort Studies
KW  - Genetic Counseling
KW  - Genotype
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Mutation
KW  - Phenotype
KW  - Retinoblastoma
TI  - Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
TY  - research article
ER  -