Literature DB >> 7516232

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.

T Bienvenu1, C Cazeneuve, C Beldjord, D Dusser, J C Kaplan, D Hubert.   

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Year:  1994        PMID： 7516232     DOI： 10.1093/hmg/3.2.365

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

1.  The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

Authors:  Hanaa Banjar; Raef Qeretli; Ali Ramadan; Abdullah Al-Ibraheem; Fahad Bnatig
Journal:  Int J Pediatr Adolesc Med       Date:  2021-03-22

2.  Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Authors:  Hanaa Hasan Banjar; Lin Tuleimat; Abdul Aziz Agha El Seoudi; Ibrahim Mogarri; Sami Alhaider; Imran Yaqoob Nizami; Talal AlMaghamsi; Sara Andulrahman Alkaf; Nabil Moghrabi
Journal:  Ann Saudi Med       Date:  2020-02-06       Impact factor: 1.526
  2 in total

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