Ontology highlight
ABSTRACT:
SUBMITTER: Barbosa RH
PROVIDER: S-EPMC2726130 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Barbosa Raquel H RH Vargas Fernando R FR Lucena Evandro E Bonvicino Cibele R CR Seuánez Héctor N HN
BMC medical genetics 20090729
<h4>Background</h4>The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father.<h4>Methods</h4>Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity.<h4>Results</h4>The proband was a carrier of a novel RB1 constitutive mutation (g.2056C>G) which was not detected in ...[more]