title: Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: P
authors.initials: P
authors.lastname: Van Der Vlies
authors.forename: M
authors.initials: M
authors.lastname: Burton
authors.forename: E
authors.initials: E
authors.lastname: Verlind
authors.forename: A C
authors.initials: AC
authors.lastname: Moll
authors.forename: S M
authors.initials: SM
authors.lastname: Imhof
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D005260:Female; D016161:Genes, Retinoblastoma / Q000235:genetics*; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D019683:Penetrance; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012175:Retinoblastoma / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D012333:RNA, Messenger