Literature DB >> 9350831

Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)

E A Parizotto, C S Bertuzzo.   

Abstract

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Year:  1997        PMID： 9350831      PMCID： PMC1051105          DOI： 10.1136/jmg.34.10.877

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


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  16 in total

1.  Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.

Authors:  M Chillón; V Nunes; T Casals; F J Giménez; E Fernández; J Benítez; X Estivill
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.

Authors:  G Novelli; P Gasparini; A Savoia; P F Pignatti; F Sangiuolo; B Dallapiccola
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

4.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

5.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

6.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

7.  Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology.

Authors:  A Duarte; C Barreto; L Marques-Pinto; M C Tavares; J Amil; M Pinto; M L Chieira; S Castedo; J Lavinha
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

8.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

9.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

10.  Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.

Authors: 
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878
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