Literature DB >> 10077727

Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.

O Loumi1, M Baghriche, M Delpech, J C Kaplan, T Bienvenu.   

Abstract

The spectrum of cystic fibrosis (CF) mutations in the North African population remains poorly known. In order to offer an effective diagnostic service and to determine accurate risk estimates, we decided to identify the CF mutations in 10 Algerian CF families. We carried out a chemical-clamp denaturing gradient gel electrophoresis analysis of the CFTR gene and automated direct DNA sequencing. We identified 5 mutations and we characterized 60% of the CF chromosomes. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients.

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Year:  1999        PMID: 10077727     DOI: 10.1159/000022849

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  3 in total

1.  A haplotype framework for cystic fibrosis mutations in Iran.

Authors:  Elahe Elahi; Ahmad Khodadad; Ilya Kupershmidt; Fereshteh Ghasemi; Babak Alinasab; Ramin Naghizadeh; Robert G Eason; Mahshid Amini; Mehran Esmaili; Mohammad R Esmaeili Dooki; Mohammad H Sanati; Ronald W Davis; Mostafa Ronaghi; Yvonne R Thorstenson
Journal:  J Mol Diagn       Date:  2006-02       Impact factor: 5.568

Review 2.  Cystic fibrosis on the African continent.

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

3.  Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Authors:  César Paz-Y-Miño; Ana Karina Zambrano; Juan Carlos Ruiz-Cabezas; Isaac Armendáriz-Castillo; Jennyfer M García-Cárdenas; Santiago Guerrero; Andrés López-Cortés; Andy Pérez-Villa; Patricia Guevara-Ramírez; Verónica Yumiceba; Paola E Leone
Journal:  Biomed Res Int       Date:  2020-05-29       Impact factor: 3.411

  3 in total

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