Diagnostyka molekularna chorób uwarunkowanych genetycznie.

Translated title of the contribution: Molecular diagnosis of inherited disease

C. Zekanowski, Wojciech 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.

Original languagePolish
Pages (from-to)153-170
Number of pages18
JournalMedycyna wieku rozwojowego
Volume3
Issue number1
StatePublished - 1999
Externally publishedYes

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Mutation
Medical Genetics
Nucleic Acids
Molecular Biology
Phenotype
Genes

Cite this

Diagnostyka molekularna chorób uwarunkowanych genetycznie. / Zekanowski, C.; Wiszniewski, Wojciech.

In: Medycyna wieku rozwojowego, Vol. 3, No. 1, 1999, p. 153-170.

Research output: Contribution to journalReview article

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