A cisztás fibrózis öt mutációjának vizsgálata a magyar populációban.

Translated title of the contribution: Analysis of five mutations of cystic fibrosis occurring in the Hungarian population

K. Németh, K. Holics, R. Ujhelyi, A. Váradi, G. Fekete

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The authors screened 374 patients clinically diagnosed be affected by cystic fibrosis. Mutations delta F508, G542X, G551D, R553X, N1303K were analysed to obtain genetic diagnosis. The large number of patients involved in this study allowed for authors to present precise data of the frequencies of these mutations in Hungary. The frequency of mutation delta F508 is found to be significantly less then the numbers reported in other studies. This is due to sampling bias occurring at little sample sizes. Mutational analysis has been used as a tool of prenatal diagnosis.

Original languageHungarian
Pages (from-to)899-903
Number of pages5
JournalOrvosi Hetilap
Volume137
Issue number17
Publication statusPublished - Apr 28 1996

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Mutation Rate
Cystic Fibrosis
Mutation
Hungary
Selection Bias
Prenatal Diagnosis
Sample Size
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A cisztás fibrózis öt mutációjának vizsgálata a magyar populációban. / Németh, K.; Holics, K.; Ujhelyi, R.; Váradi, A.; Fekete, G.

In: Orvosi Hetilap, Vol. 137, No. 17, 28.04.1996, p. 899-903.

Research output: Contribution to journalArticle

Németh, K. ; Holics, K. ; Ujhelyi, R. ; Váradi, A. ; Fekete, G. / A cisztás fibrózis öt mutációjának vizsgálata a magyar populációban. In: Orvosi Hetilap. 1996 ; Vol. 137, No. 17. pp. 899-903.
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