New approaches in medical molecular genetics: Presymptomatic diagnosis in familial hyperlipoproteinaemia by LDL receptor cDNA probe

A. Falus, L. Romics

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Cloned DNA probes can now be targeted directly into selected genes, to identify those at risk of inherited diseases. This review focuses on the use of such probes in the diagnosis of familial hypercholesterolaemia, by detecting mutations in the gene for the low-density lipoprotein receptor.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalClinical Chemistry and Enzymology Communications
Volume1
Issue number1
Publication statusPublished - Jan 1 1988

ASJC Scopus subject areas

  • Clinical Biochemistry

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