Literature DB >> 1944451

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.

T V Strong1, L S Smit, S V Turpin, J L Cole, C T Hon, D Markiewicz, T L Petty, M W Craig, E C Rosenow, L C Tsui.   

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Year:  1991        PMID： 1944451     DOI： 10.1056/NEJM199112053252307

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  15 in total

1.  Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

Authors:  C Vazquez; G Antiñolo; T Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; X Estivill
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

Authors:  P W Miller; A Hamosh; M Macek; P A Greenberger; J MacLean; S M Walden; R G Slavin; G R Cutting
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles.

Authors:  D Meschede; B Dworniczak; H M Behre; S Kliesch; M Claustres; E Nieschlag; J Horst
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

4.  Mutations within the first LSGGQ motif of Ste6p cause defects in a-factor transport and mating in Saccharomyces cerevisiae.

Authors:  B L Browne; V McClendon; D M Bedwell
Journal:  J Bacteriol       Date:  1996-03       Impact factor: 3.490

5.  Clinical quiz. Sweat test indicates cystic fibrosis in a child with sweat sodium of 99 mmol/l and sweat chloride of 139 mmol/l.

Authors:  M C English
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

6.  CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

Authors:  D J Wilkinson; M K Mansoura; P Y Watson; L S Smit; F S Collins; D C Dawson
Journal:  J Gen Physiol       Date:  1996-01       Impact factor: 4.086

Review 7.  Spectrum of mutations in cystic fibrosis.

Authors:  G R Cutting
Journal:  J Bioenerg Biomembr       Date:  1993-02       Impact factor: 2.945

8.  Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.

Authors:  L S Smit; D J Wilkinson; M K Mansoura; F S Collins; D C Dawson
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205

9.  The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.

Authors:  M Nemeti; J P Johnson; Z Papp; E Louie
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

Review 10.  Cystic fibrosis.

Authors:  M R Bye; J M Ewig; L M Quittell
Journal:  Lung       Date:  1994       Impact factor: 2.584
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