Literature DB >> 2574355

Delta F508 gene deletion in cystic fibrosis in southern Europe.

X Estivill, M Chillon, T Casals, A Bosch, N Morral, V Nunes, P Gasparini, A Seia, P F Pignatti, G Novelli.   

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Year:  1989        PMID： 2574355     DOI： 10.1016/s0140-6736(89)92024-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  16 in total

1.  A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Authors:  V Nunes; A Bonizzato; A Gaona; M Dognini; M Chillón; T Casals; P F Pignatti; G Novelli; X Estivill; P Gasparini
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Frequency of the cystic fibrosis mutation delta F508 in Algeria.

Authors:  G Lucotte; E Barré; S Berriche
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

4.  A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Authors:  L Osborne; R Knight; G Santis; M Hodson
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

5.  Frequency of the cystic fibrosis mutation delta F508 in Poland.

Authors:  J Bal; D Maciejko; T Mazurczak; A Potocka; M Krawczak; J Reiss
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

6.  CFTR mutations in Chilean cystic fibrosis patients.

Authors:  J Rios; O Orellana; M Aspillaga; I Avendano; I Largo; N Riveros
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

7.  Cystic fibrosis in Argentina: the frequency of the delta F508 mutation.

Authors:  M C Luna; P A Granados; K Olek; O H Pivetta
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

8.  Analysis of 14 cystic fibrosis mutations in five south European populations.

Authors:  V Nunes; P Gasparini; G Novelli; A Gaona; A Bonizzato; F Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

9.  Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.

Authors:  T A Grebe; W W Doane; S F Richter; C Clericuzio; R A Norman; W K Seltzer; S N Rhodes; B E Goldberg; L S Hernried; M McClure
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

10.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318
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