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Publications by N Fonknechten

Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.

Journal of Medical Genetics

Genetics

1993

English

Related publications

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

Genetics

1991

English

Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.

Journal of Medical Genetics

Genetics

1992

English

Cystic Fibrosis in a Puerto Rican Female Homozygous for the R1066C Mutation.

Journal of Medical Genetics

Genetics

1998

English

Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

English

A Novel Exon in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Activated by the Nonsense Mutation E92X in Airway Epithelial Cells of Patients With Cystic Fibrosis.

Journal of Clinical Investigation

Medicine

1994

English

Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8

Circulation

Cardiovascular Medicine

Physiology

Cardiology

2003

English

CFTR Transcripts Are Undetectable in Lymphocytes and Respiratory Epithelial Cells of a CF Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

Genetics

1993

English

A G542X Cystic Fibrosis Mouse Model for Examining Nonsense Mutation Directed Therapies

PLoS ONE

Multidisciplinary

2018

English

smFRET Reveals Structural Basis for Conformational Misfolding of a Cystic Fibrosis Mutation in CFTR

Biophysical Journal

Biophysics

2017

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by N Fonknechten

Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.

Related publications

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.

Cystic Fibrosis in a Puerto Rican Female Homozygous for the R1066C Mutation.

Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

A Novel Exon in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Activated by the Nonsense Mutation E92X in Airway Epithelial Cells of Patients With Cystic Fibrosis.

Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8

CFTR Transcripts Are Undetectable in Lymphocytes and Respiratory Epithelial Cells of a CF Patient Homozygous for the Nonsense Mutation R553X.

A G542X Cystic Fibrosis Mouse Model for Examining Nonsense Mutation Directed Therapies

smFRET Reveals Structural Basis for Conformational Misfolding of a Cystic Fibrosis Mutation in CFTR