Prader-Willi-szindróma diagnózisa reverz transzkripciós polimeráz láncreakcióval.

T. Varjas, E. Nádasi, E. Kovács, J. Molnár, B. Melegh, G. Kosztolányi

Research output: Article

1 Citation (Scopus)

Abstract

To approve Prader-Willi syndrome by molecular diagnostic assay, polymerase chain reaction of reverse-transcribed RNA was introduced by which indirect information can be gained on all known forms of the mutation. In this pilot study, 4 patients and 16 healthy control individuals were examined. Although the different mutation forms can not directly by identified by this approach, it is a useful and reliable test to confirm the clinical diagnosis of the Prader-Willi syndrome, and to screen for the syndrome in patients who present with only a few typical features.

Original languageHungarian
Pages (from-to)1685-1687
Number of pages3
JournalOrvosi hetilap
Volume139
Issue number28
Publication statusPublished - júl. 12 1998

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ASJC Scopus subject areas

  • Medicine(all)

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