[Molecular diagnosis of inherited disease].
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.
Zakład Genetyki IMD, Instytut Matki i Dziecka w Warszawie.
C
C
Zekanowski
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W
Wiszniewski
D005821:Genetic Techniques; D005820:Genetic Testing / Q000379:methods*; D006801:Humans