Prader-Willi-szindróma diagnózisa reverz transzkripciós polimeráz láncreakcióval.

Translated title of the contribution: Diagnosis of Prader-Willi syndrome by reverse transcriptase polymerase chain reaction

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

Research output: Contribution to journalArticle

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 - Jul 12 1998

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Prader-Willi Syndrome
Reverse Transcriptase Polymerase Chain Reaction
Mutation
Molecular Pathology
RNA
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Prader-Willi-szindróma diagnózisa reverz transzkripciós polimeráz láncreakcióval. / Varjas, T.; Nádasi, E.; Kovács, E.; Molnár, J.; Melegh, B.; Kosztolányi, G.

In: Orvosi Hetilap, Vol. 139, No. 28, 12.07.1998, p. 1685-1687.

Research output: Contribution to journalArticle

Varjas, T, Nádasi, E, Kovács, E, Molnár, J, Melegh, B & Kosztolányi, G 1998, 'Prader-Willi-szindróma diagnózisa reverz transzkripciós polimeráz láncreakcióval.', Orvosi Hetilap, vol. 139, no. 28, pp. 1685-1687.
Varjas, T. ; Nádasi, E. ; Kovács, E. ; Molnár, J. ; Melegh, B. ; Kosztolányi, G. / Prader-Willi-szindróma diagnózisa reverz transzkripciós polimeráz láncreakcióval. In: Orvosi Hetilap. 1998 ; Vol. 139, No. 28. pp. 1685-1687.
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