A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.28.10.715
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

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

Journal of Medical Genetics
Genetics
1993English

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
1993English

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

Journal of Medical Genetics
Genetics
1992English

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

Journal of Medical Genetics
Genetics
1998English

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

PLoS ONE
Multidisciplinary
2018English

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

Journal of Medical Genetics
Genetics
1996English

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
2007English

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
1994English

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

Pediatric Research
Child HealthPediatricsPerinatology
1992English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy