Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

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Bibliographic Details
Published in:Journal of medical genetics 2000-07, Vol.37 (7), p.e6-6
Main Authors: SCHEFFER, H, VAN DER VLIES, P, BURTON, M, VERLIND, E, MOLL, A C, IMHOF, S M, BUYS, C H C M
Format: Article
Language:English
Subjects:
Asymptomatic
Electronic Letters
Female
Genes, Retinoblastoma - genetics
Germ-Line Mutation
Heterozygote
Humans
Male
Mutation
Mutation, Missense
Pedigree
Penetrance
Polymorphism, Single-Stranded Conformational
Retinoblastoma
Retinoblastoma - genetics
Reverse Transcriptase Polymerase Chain Reaction
RNA Splicing - genetics
RNA, Messenger - genetics
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Online Access:Get full text
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.7.e6