Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

B Dallapiccola; G Novelli; A Giannotti

doi:10.1007/BF00291721

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

Hum Genet. 1988 May;79(1):92. doi: 10.1007/BF00291721.

Authors

B Dallapiccola¹, G Novelli, A Giannotti

Affiliation

¹ Cattedra di Genetica, II Università di Roma, Italy.

PMID: 3366467
DOI: 10.1007/BF00291721

Abstract

In a new case of interstitial del(2q), measurements of ribulose 5-phosphate 3-epimerase activity suggested that the locus for this enzyme might be localized to the subregion 2q32----q33.3.

Publication types

Case Reports

MeSH terms

Carbohydrate Epimerases / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Dosage Compensation, Genetic
Female
Humans
Infant
Karyotyping

Substances

Carbohydrate Epimerases
ribulosephosphate 3-epimerase