Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon-Reference-Cited by-同舟云学术

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon

Published:2019-01-01 Issue:2 Volume:7 Page:e00526
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Schucht Sylvia¹,Minso Rebecca²,Lex Christiane¹,Reiss Jochen³,Stanke Frauke²⁴,Tamm Stephanie²,van Barneveld Andrea²,Tümmler Burkhard²⁴^ORCID

Affiliation:

1. Pediatric Pulmonary and Allergology Outpatient Clinic, Paediatric Cardiology and Intensive Care Medicine; Universitätsmedizin Göttingen; Göttingen Germany

2. Clinical Research Group ‘Molecular Pathology of Cystic Fibrosis’, Clinic for Paediatric Pneumology, Allergology and Neonatology; Hannover Medical School; Hannover Germany

3. Institute for Human Genetics; Universitätsmedizin Göttingen; Göttingen Germany

4. Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH); Member of the German Center for Lung Research; Hannover Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.526/fullpdf

Reference22 articles.

1. Recommendations for the classification of diseases as CFTR-related disorders;Bombieri;Journal of Cystic Fibrosis,2011