Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis-Reference-Cited by-同舟云学术

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Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

Published:2011-05 Issue:3 Volume:10 Page:217-220
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Ivady Gergely,Madar Laszlo,Nagy Bela,Gonczi Ferenc,Ajzner Eva,Dzsudzsak Erika,Dvořáková Lenka,Gombos Eva,Kappelmayer Janos,Macek Milan,Balogh Istvan

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Analysis of five CFTR mutations in Hungarian cystic fibrosis patients;Nemeth;J Inherit Metab Dis,1996

2. Molecular analysis of cystic fibrosis in the Hungarian population;Nemeti;Hum Genet,1991

3. The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients;Nemeti;Hum Genet,1992

4. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel;Rosenstein;J Pediatr,1998

5. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders—updated European recommendations;Dequeker;Eur J Hum Genet,2009

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2. Laboratory biomarkers for lung disease severity and progression in cystic fibrosis;Clinica Chimica Acta;2020-09

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4. Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics;The Clinical Respiratory Journal;2017-06-05

5. Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis;Chest;2016-09

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