Diagnostyka molekularna chorób uwarunkowanych genetycznie.

Translated title of the contribution: Molecular diagnosis of inherited disease

C. Zekanowski, W. Wiszniewski

Research output: Contribution to journalReview article

Abstract

The ability to detect mutations in nucleic acids sequence is of fundamental importance in medical molecular genetics. The aim is to link mutations of identified genes to particular disease phenotypes and to facilitate rapid, molecular diagnosis. There are numerous techniques described for screening unknown mutations, and for diagnosing those which have been identified previously. Each method offers different advantages and has its own limitations.

Translated title of the contributionMolecular diagnosis of inherited disease
Original languagePolish
Pages (from-to)153-170
Number of pages18
JournalMedycyna wieku rozwojowego
Volume3
Issue number1
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Medicine(all)

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