Literature DB >> 12050863

Molecular diagnosis of cystic fibrosis.

Antony E Shrimpton1.   

Abstract

A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype-genotype correlation, methods and method limitations, options, statements, recommendations, useful Websites and treatments.

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Year:  2002        PMID: 12050863     DOI: 10.1586/14737159.2.3.240

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN: 1473-7159            Impact factor:   5.225


  2 in total

1.  The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Authors:  Murat Erdoğan; Mehmet Köse; Sevgi Pekcan; Melih Hangül; Burhan Balta; Aslıhan Kiraz; Gizem Akıncı Gönen; Ayşe Gül Zamani; Mahmut Selam Yıldırım; Tuğba Ramaslı Gürsoy; Fatih Ezgu; Tuğba Şişmanlar Eyüpoğlu; Ayse Tana Aslan
Journal:  Balkan Med J       Date:  2021-11       Impact factor: 2.021

2.  Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

Authors:  Karen Sánchez; Elizabeth de Mendonca; Xiorama Matute; Ismenia Chaustre; Marlene Villalón; Howard Takiff
Journal:  Appl Clin Genet       Date:  2016-03-08
  2 in total

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