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Publications by J Bal

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

Genetics

1991

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

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

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

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

PLoS ONE

Multidisciplinary

2018

English

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

Journal of Medical Genetics

Genetics

1996

English

Exon Skipping Through the Creation of a Putative Exonic Splicing Silencer as a Consequence of the Cystic Fibrosis Mutation R553X

Journal of Medical Genetics

Genetics

2007

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

Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J Bal

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Related publications

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

CFTR Transcripts Are Undetectable in Lymphocytes and Respiratory Epithelial Cells of a CF 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.

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

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

Exon Skipping Through the Creation of a Putative Exonic Splicing Silencer as a Consequence of the Cystic Fibrosis Mutation R553X

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.

Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations