Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.

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Serval ID
serval:BIB_9013
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
Institution
UNIL/CHUV
Title
Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.
Journal
American journal of human genetics
Author(s)
Munier F.L., Thonney F., Girardet A., Balmer A., Claustre M., Pellestor F., Senn A., Pescia G., Schorderet D.F.
ISSN
0002-9297
Publication state
Published
Issued date
1998
Peer-reviewed
Oui
Volume
63
Number
6
Pages
1903-8
Language
english
Notes
Publication types: Letter ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Keywords
DNA Mutational Analysis, Female, Genes, Retinoblastoma, Genotype, Humans, Male, Mosaicism, Mutation, Pedigree, Penetrance, Retinal Neoplasms, Retinoblastoma, Spermatozoa
OAI-PMH
oai:serval.unil.ch:BIB_9013
DOI
10.1086/302138
Pubmed
9837842
Web of science
000077707700035
Open Access
Yes
Create date
19/11/2007 13:47
Last modification date
20/08/2019 15:53
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