Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.
Scheffer
H
H
Van Der Vlies
P
P
Burton
M
M
Verlind
E
E
Moll
A C
AC
Imhof
S M
SM
Buys
C H
CH
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
D012333:RNA, Messenger