Literature DB >> 7477025

Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.

M Tzetis1, E Kanavakis, T Antoniadi, J Traeger-Synodinos, S Doudounakis, G Adam, C Kattamis.   

Abstract

Two novel CFTR mutations were detected in Greek cystic fibrosis patients. One was a missense mutation, A46D, and the other a splice mutation, 296 + 1G-C. Neither was detected on normal chromosomes.

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Year:  1995        PMID: 7477025     DOI: 10.1016/s0890-8508(95)90169-8

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN: 0890-8508            Impact factor:   2.365


  1 in total

1.  Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems.

Authors:  S Tanriverdi; M Polat; H Onay
Journal:  Balkan J Med Genet       Date:  2022-06-05       Impact factor: 0.810

  1 in total

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