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[Genetic revision of the Hungarian Cystic Fibrosis Registry].

Orvosi hetilap - 18 Dec 2022

Deák Anna, Koczok Katalin, Bessenyei Beáta, Szűcs Zsuzsanna, Madar László, Csorba Gabriella, Orosz Orsolya, Laki István, Halász Adrien, Marsal Géza, Balogh István

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations. OBJECTIVE: In order to develop a diagnostic strategy for cystic fibrosis and to facilitate mutation-specific treatments, the genetic revision of the Hungarian Cystic Fibrosis Registry was performed. METHOD: 582...

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PMID: 36528828
DOI: 10.1556/650.2022.32655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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