Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health
Reference13 articles.
1. Clinical features associated with a delayed diagnosis of cystic fibrosis;McCloskey;Respiration,2000
2. Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations;Jezequel;Mol Hum Reprod,2000
3. Late diagnosis defines a unique population of long-term survivors of cystic fibrosis;Rodman;Am J Respir Crit Care Med,2005
4. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study;McKone;Lancet,2003
5. Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease;Friedman;Hum Mutat,1997
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