Literature DB >> 8946114

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

M Witt1, A Pogorzelski, J Zebrak, E Rutkiewicz.   

Abstract

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21-year-old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal reflux.

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Year:  1996        PMID: 8946114     DOI: 10.1111/j.1399-0004.1996.tb02370.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.

Authors:  M De Braekeleer; C Allard; J P Leblanc; F Simard; G Aubin
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

  1 in total

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