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


Autoria(s): Munier F.L.; Thonney F.; Girardet A.; Balmer A.; Claustre M.; Pellestor F.; Senn A.; Pescia G.; Schorderet D.F.
Data(s)

1998

Identificador

http://serval.unil.ch/?id=serval:BIB_9013

isbn:0002-9297

pmid:9837842

doi:10.1086/302138

isiid:000077707700035

Idioma(s)

en

Fonte

American journal of human genetics, vol. 63, no. 6, pp. 1903-8

Palavras-Chave #DNA Mutational Analysis; Female; Genes, Retinoblastoma; Genotype; Humans; Male; Mosaicism; Mutation; Pedigree; Penetrance; Retinal Neoplasms; Retinoblastoma; Spermatozoa
Tipo

info:eu-repo/semantics/article

article