[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].

doi:10.1055/s-2008-1045999

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Article

[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].

Klinische Monatsblatter fur Augenheilkunde - 1 May 1991

Munier F, Balmer A, von Moos C, Pescia G, Gailloud C, van Melle G, Thonney F, Gaide A C, Allaz M J, Rutz H P

Abstract excerpt

Activity and phenotype of red blood cell esterase D were systematically determined in a population of 128 retinoblastoma patients from 99 families and compared to 158 controls, in order to detect a chromosome 13q14 deletion. Among these patients 12 were healthy carriers and 116 affected carriers of a mutant allele of the retinoblastoma susceptibility gene (110 retinoblastoma, 5 retinoma, 1 phtisis bulbi). 4...

Topics

Carboxylesterase
Carboxylic Ester Hydrolases
Chromosome Deletion
Chromosomes, Human, Pair 13
Eye Neoplasms
Female
Gene Frequency
Genetic Carrier Screening
Genetic Testing
Humans

Male

Phenotype

Retinoblastoma

Switzerland

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