Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma
Work
Year: 2021
Type: article
Abstract: Our aim was to identify RB1 alterations causing hereditary low penetrance retinoblastoma and to evaluate how the parental origin of an RB1 mutation affects its phenotypic expression. By NGS and MLPA, ... more
Source: Cancers
Authors Ekaterina A. Alekseeva, О. В. Бабенко, В. М. Козлова, Tatiana L. Ushakova, T. P. Kazubskaya +10 more
Institutions Research Centre for Medical Genetics, Sechenov University, Ministry of Health of the Russian Federation, Russian Medical Academy of Continuous Professional Education
Cites: 30
Cited by: 8
Related to: 10
FWCI: 1.523
Citation percentile (by year/subfield): 86.68
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Sustainable Development Goal Good health and well-being
Open Access status: gold
APC paid (est): $2,598
Grant ID RCMG