Anemia di Fanconi: tests in vitro per l'individuazione degli eterozigoti.

Translated title of the contribution: Fanconi's anemia: in vitro tests for the individualization of heterozygotes

A. Farulla, E. Monaco, C. R. Corrao, F. Cardoni, S. Simonazzi, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Fanconi's anaemia (FA) is an autosomal recessive mutation associated with constitutional chromosome aberrations. Patient's cells show increased susceptibility to different mutagens, especially bifunctional alkylating agents. Asymptomatic heterozygotes have a population prevalence of 1 in 300, and have been considered at risk for cancers. It has also been shown that their cells are especially sensitive to some chemicals in vitro. Laboratory tests are presented and discussed which are adequate for FA heterozygotes identification and for understandings the basic defect of this mutation.

Translated title of the contributionFanconi's anemia: in vitro tests for the individualization of heterozygotes
Original languageItalian
Pages (from-to)133-138
Number of pages6
JournalGiornale Italiano di Medicina del Lavoro
Volume8
Issue number3-4
Publication statusPublished - May 1986

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Rehabilitation

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