Literature DB >> 9475107

Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.

M H Liang, L J Wong, D Klein, B Shapiro, C M Bowman, E Hsu, L J Wong.   

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Year:  1998        PMID： 9475107      PMCID： PMC1051202          DOI： 10.1136/jmg.35.1.84-a

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


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  8 in total

1.  A HinfI polymorphism in the cystic fibrosis gene CFTR.

Authors:  T Dörk; U Wulbrand; B Tümmler
Journal:  Nucleic Acids Res       Date:  1991-05-11       Impact factor: 16.971

2.  Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

Authors:  M Chillón; T Casals; J Giménez; M D Ramos; A Palacio; N Morral; X Estivill; V Nunes
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

3.  Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; R Rozmahel; D Bozon; B Kerem; Z Grzelczak; J R Riordan; J Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

4.  Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Authors:  P F Pignatti; C Bombieri; C Marigo; M Benetazzo; M Luisetti
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

5.  Detection of over 98% cystic fibrosis mutations in a Celtic population.

Authors:  C Férec; M P Audrezet; B Mercier; H Guillermit; P Moullier; I Quere; C Verlingue
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

6.  Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

Authors:  P Fanen; N Ghanem; M Vidaud; C Besmond; J Martin; B Costes; F Plassa; M Goossens
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

7.  Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.

Authors:  H G de Vries; K Niezen-Koning; J W Kliphuis; G P Smit; H Scheffer; L P ten Kate
Journal:  Hum Genet       Date:  1996-07       Impact factor: 4.132

8.  Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

Authors:  T Dörk; F Mekus; K Schmidt; J Bosshammer; R Fislage; T Heuer; V Dziadek; T Neumann; N Kälin; U Wulbrand
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
  8 in total
  1 in total

1.  Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Authors:  Katiana Murieli da Rosa; Eliandra da Silveira de Lima; Camila Correia Machado; Thaiane Rispoli; Victória d'Azevedo Silveira; Renata Ongaratto; Talitha Comaru; Leonardo Araújo Pinto
Journal:  J Bras Pneumol       Date:  2018 Nov-Dec       Impact factor: 2.624
  1 in total

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