Article
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.
Proceedings of the National Academy of Sciences of the United States of America - 28 Oct 1997
Otterson G A, Chen W d, Coxon A B, Khleif S N, Kaye F J
Abstract excerpt
To study the molecular basis for the clinical phenotype of incomplete penetrance of familial retinoblastoma, we have examined the functional properties of three RB mutations identified in the germ line of five different families with low penetrance. RB mutants isolated from common adult cancers and from classic familial retinoblastoma (designated as classic RB mutations) are unstable and generally do not localize...
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