Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Sánchez-Sánchez, Francisco

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. [electronic resource] - Human mutation Feb 2007 - 159-67 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20394 doi


Alternative Splicing
Amino Acid Sequence
Child
Codon, Nonsense
DNA Mutational Analysis
Exons
Female
Frameshift Mutation
Genetic Predisposition to Disease
Genotype
Green Fluorescent Proteins--analysis
Humans
Infant
Male
Molecular Sequence Data
Penetrance
Peptide Chain Initiation, Translational
Phenotype
RNA, Messenger--metabolism
Retinoblastoma--diagnosis
Retinoblastoma Protein--analysis