Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study

F. Ajmar, G. Lamedica, C. Garrè, R. Ravazzolo, M. Sessarego, A. Campostano

Research output: Contribution to journalArticle

Abstract

A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.

Original languageEnglish
Pages (from-to)347-351
Number of pages5
JournalHuman Genetics
Volume52
Issue number3
DOIs
Publication statusPublished - Dec 1979

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Ajmar, F., Lamedica, G., Garrè, C., Ravazzolo, R., Sessarego, M., & Campostano, A. (1979). Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study. Human Genetics, 52(3), 347-351. https://doi.org/10.1007/BF00278684