Literature DB >> 1770543

Cystic fibrosis in Bulgaria.

L Kalaydjieva, D Angelicheva, I Galeva, V Lalov, D Konstantinova.   

Abstract

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Year:  1991        PMID： 1770543      PMCID： PMC1017123          DOI： 10.1136/jmg.28.11.807

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  1 in total

1.  A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Authors:  H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318
  1 in total
  3 in total

1.  Two cystic fibrosis patients with the genotype G542X/G551D.

Authors:  J Reiss; U Ellermeyer; M Schloesser; W Fuhrmann; D Drews; H G Posselt
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

2.  Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Authors:  M Desgeorges; M Laussel; B Rollin; J Demaille; M Claustres
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.

Authors:  R Slomski; M Schloesser; L P Berg; M Wagner; V V Kakkar; D N Cooper; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132
  3 in total

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