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Publications by J Reiss
A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.
Journal of Medical Genetics
Genetics
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
Related publications
Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.
Journal of Medical Genetics
Genetics
Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.
Journal of Medical Genetics
Genetics
Cystic Fibrosis in a Puerto Rican Female Homozygous for the R1066C Mutation.
Journal of Medical Genetics
Genetics
A G542X Cystic Fibrosis Mouse Model for Examining Nonsense Mutation Directed Therapies
PLoS ONE
Multidisciplinary
First Report of Three Cystic Fibrosis Patients Homozygous for the 1717-1g-->A Mutation.
Journal of Medical Genetics
Genetics
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
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
Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations
Pediatric Research
Child Health
Pediatrics
Perinatology