Literature DB >> 23640408

New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient.

Sondess Hadj Fredj1, Monia Boudaya, Sabrine Oueslati, Safa Sahnoun, Chaima Sahli, Hajer Siala, Khedija Boussetta, Amina Bibi, Taieb Messaoud.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23640408     DOI： 10.1007/s12041-013-0208-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


× No keyword cloud information.
  7 in total

1.  CFTR mutations in the Algerian population.

Authors:  O Loumi; C Ferec; B Mercier; J Creff; B Fercot; R Denine; J P Grangaud
Journal:  J Cyst Fibros       Date:  2007-06-14       Impact factor: 5.482

2.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

3.  Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Authors:  C Le Maréchal; M P Audrézet; I Quéré; O Raguénès; S Langonné; C Férec
Journal:  Hum Genet       Date:  2001-04       Impact factor: 4.132

4.  [Molecular epidemiology of cystic fibrosis in Tunisia].

Authors:  T Messaoud; S Bel Haj Fredj; A Bibi; J Elion; C Férec; S Fattoum
Journal:  Ann Biol Clin (Paris)       Date:  2005 Nov-Dec       Impact factor: 0.459

5.  Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.

Authors:  T Messaoud; C Verlingue; E Denamur; O Pascaud; I Quéré; S Fattoum; J Elion; C Férec
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

6.  Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.

Authors:  Sondess Hadj Fredj; Taïeb Messaoud; Carine Templin; Marie des Georges; Slaheddine Fattoum; Mireille Claustres
Journal:  Genet Test Mol Biomarkers       Date:  2009-10

7.  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 in total
  2 in total

Review 1.  Cystic fibrosis on the African continent.

Authors:  Cheryl Stewart; Michael S Pepper
Journal:  Genet Med       Date:  2015-12-10       Impact factor: 8.822

2.  Genetics and genomic medicine in Tunisia.

Authors:  Houda Elloumi-Zghal; Habiba Chaabouni Bouhamed
Journal:  Mol Genet Genomic Med       Date:  2018-03       Impact factor: 2.183
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.