Delta-F508 szúrés a pécsi Perinatalis Intenzív Centrumban ápolt újszülöttekben.

Translated title of the contribution: Delta-F508 screening of infants at the Perinatal Intensive Care Center of the city if Pécs

J. Stankovics, B. Melegh, G. Kosztolányi

Research output: Contribution to journalArticle

Abstract

Cystic fibrosis (CF) is one of the most frequent (1:2500), potentially lethal autosomal recessive diseases among Caucasians. Molecular genetic examination has become the most valuable method used for diagnosis or population screening. 300 newborns treated in the Perinatal Intensive Care Unit were examined for the mutation delta F508. The results showed that the frequency of affected deltaF508 homozygotes was 1:100, which is significantly higher than found in the general population, but the frequency of carriers (1:33) is similar to the overall value.

Original languageHungarian
Pages (from-to)2451-2453
Number of pages3
JournalOrvosi Hetilap
Volume137
Issue number44
Publication statusPublished - Nov 3 1996

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Perinatal Care
Critical Care
Homozygote
Cystic Fibrosis
Population
Intensive Care Units
Molecular Biology
Newborn Infant
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Delta-F508 szúrés a pécsi Perinatalis Intenzív Centrumban ápolt újszülöttekben. / Stankovics, J.; Melegh, B.; Kosztolányi, G.

In: Orvosi Hetilap, Vol. 137, No. 44, 03.11.1996, p. 2451-2453.

Research output: Contribution to journalArticle

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abstract = "Cystic fibrosis (CF) is one of the most frequent (1:2500), potentially lethal autosomal recessive diseases among Caucasians. Molecular genetic examination has become the most valuable method used for diagnosis or population screening. 300 newborns treated in the Perinatal Intensive Care Unit were examined for the mutation delta F508. The results showed that the frequency of affected deltaF508 homozygotes was 1:100, which is significantly higher than found in the general population, but the frequency of carriers (1:33) is similar to the overall value.",
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