A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022

Innate immunity in cystic fibrosis lung disease.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2012

[The German centre for lung research - translational research for the prevention, diagnosis and treatment of respiratory diseases].

Pneumologie (Stuttgart, Germany)·2012

Morphological analysis of the trachea and pattern of breathing in βENaC-Tg mice.

Respiratory physiology & neurobiology·2011

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Clinical genetics·2010

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Human mutation·2026

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Human mutation·2026

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Human mutation·2026

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Human mutation·2026

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

Human mutation·2026

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Human mutation·2026

How mutagenic are transposable elements?

Trends in genetics : TIG·2026

Characterisation of Nine Novel HLA Class II Alleles From Russian Registry.

HLA·2026

The activity, divergence, and evolutionary degradation of modern-day homing endonucleases and behavior of their reconstructed ancestors.

Nucleic acids research·2026

Version 2.0 of the Hermes transposon-based mutagenesis system for prototrophic mutant pool generation in Candida glabrata.

Microbiology spectrum·2026

Defining the essential genome of diverse phages with phage Tn-seq.

Nature microbiology·2026

MosaicLev: modified Levenshtein distance for mobile element-aware genome comparison.

Bioinformatics advances·2026

Related Experiment Videos

A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene

Related Concept Videos

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.

Innate immunity in cystic fibrosis lung disease.

[The German centre for lung research - translational research for the prevention, diagnosis and treatment of respiratory diseases].

Morphological analysis of the trachea and pattern of breathing in βENaC-Tg mice.

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

How mutagenic are transposable elements?

Characterisation of Nine Novel HLA Class II Alleles From Russian Registry.

The activity, divergence, and evolutionary degradation of modern-day homing endonucleases and behavior of their reconstructed ancestors.

Version 2.0 of the Hermes transposon-based mutagenesis system for prototrophic mutant pool generation in Candida glabrata.

Defining the essential genome of diverse phages with phage Tn-seq.

MosaicLev: modified Levenshtein distance for mobile element-aware genome comparison.

Related Experiment Videos

A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene

Related Concept Videos

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