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 contribution||Molecular diagnosis of inherited disease|
|Number of pages||18|
|Journal||Medycyna wieku rozwojowego|
|State||Published - Jan 1 1999|
ASJC Scopus subject areas