Evidence of gene dosage effect for HK 1 in the red cells of a patient with trisomy 10pter→p13

B. Dallapiccola, M. Serena Lungarotti, M. Magnani, M. Dacha

Research output: Contribution to journalArticlepeer-review

Abstract

Quantitative evaluation of six red cell enzymes in a patient with trisomy 10p syndrome showed significantly increased activity levels of HK 1. These results are in agreement with the evidence derived from another similar patient and strongly support the idea of gene dosage effect for HK 1 in the erythrocytes of 10p trisomics. It is suggested that the HK 1 structural locus may be in the 10 pter→p13 region.

Original languageEnglish
Pages (from-to)45-47
Number of pages3
JournalAnnales de Genetique
Volume24
Issue number1
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Genetics

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