Literature DB >> 1284468

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

J P Cheadle1, A L Meredith, L N al-Jader.   

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Year:  1992        PMID： 1284468     DOI： 10.1093/hmg/1.2.123

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


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  5 in total

1.  Mutation analysis of 184 cystic fibrosis families in Wales.

Authors:  J Cheadle; J Myring; L al-Jader; L Meredith
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.

Authors:  R L Dormer; C M Harris; Z Clark; M M C Pereira; I J M Doull; C Norez; F Becq; M A McPherson
Journal:  Thorax       Date:  2005-01       Impact factor: 9.139

3.  P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

Authors:  A Gilfillan; J P Warner; J M Kirk; T Marshall; A Greening; L P Ho; T Hargreave; B Stack; D McIntyre; R Davidson; J C Dean; W Middleton; D J Brock
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

4.  Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Authors:  Kunal Kundu; Lipika R Pal; Yizhou Yin; John Moult
Journal:  Hum Mutat       Date:  2017-06-27       Impact factor: 4.878

5.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025
  5 in total

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