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Article

Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2020

Laudus Nele, Audrézet Marie-Pierre, Girodon Emmanuelle, Morris Michael A, Radojkovic Dragica, Raynal Caroline, Seia Manuela, Štambergová Alexandra, Torkler Heike, Yamamoto Raina, Dequeker Elisabeth M C

Abstract excerpt

BACKGROUND: The clinical spectrum associated with cystic fibrosis transmembrane conductance regulator (CFTR) variant p.Arg117His is highly variable, ranging from full-blown cystic fibrosis (CF) in a small number of cases to CFTR-related disorders (CFTR-RDs) or no symptoms at all. Therefore, taking into account phenotype variability is essential for interpretation. External quality assessment (EQA) schemes can...

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Identifiers

PMID: 32505523
DOI: 10.1016/j.jcf.2020.05.005

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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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