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Publications by G Mastella

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

Journal of Medical Genetics

Genetics

1992

English

Related publications

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

Journal of Medical Genetics

Genetics

1993

English

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

Genetics

1991

English

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

English

First Report of Three Cystic Fibrosis Patients Homozygous for the 1717-1g-->A Mutation.

Journal of Medical Genetics

Genetics

1996

English

Nonsense Mutation R1162X of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Does Not Reduce Messenger RNA Expression in Nasal Epithelial Tissue.

Journal of Clinical Investigation

Medicine

1993

English

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

Journal of Medical Genetics

Genetics

1998

English

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators Have Differential Effects on Cystic Fibrosis Macrophage Function

Scientific Reports

Multidisciplinary

2018

English

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

PLoS ONE

Multidisciplinary

2018

English

Impaired CFTR Function in Mild Cystic Fibrosis Associated With the S977f/T5TG12complex Allele in Trans With F508del Mutation

Journal of Cystic Fibrosis

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by G Mastella

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

Related publications

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

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

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

First Report of Three Cystic Fibrosis Patients Homozygous for the 1717-1g-->A Mutation.

Nonsense Mutation R1162X of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Does Not Reduce Messenger RNA Expression in Nasal Epithelial Tissue.

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

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators Have Differential Effects on Cystic Fibrosis Macrophage Function

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

Impaired CFTR Function in Mild Cystic Fibrosis Associated With the S977f/T5TG12complex Allele in Trans With F508del Mutation