Literature DB >> 1903761

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

F Sangiuolo1, G Novelli, S Murru, B Dallapiccola.   

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Year:  1991        PMID： 1903761     DOI： 10.1016/0888-7543(91)90380-w

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  7 in total

1.  Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors:  M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

2.  Characterization of the human multidrug resistance protein containing mutations in the ATP-binding cassette signature region.

Authors:  E Bakos; I Klein; E Welker; K Szabó; M Müller; B Sarkadi; A Váradi
Journal:  Biochem J       Date:  1997-05-01       Impact factor: 3.857

3.  Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

Authors:  Michael Wilschanski; Annie Dupuis; Lynda Ellis; Keith Jarvi; Julian Zielenski; Elizabeth Tullis; Sheelagh Martin; Mary Corey; Lap-Chee Tsui; Peter Durie
Journal:  Am J Respir Crit Care Med       Date:  2006-07-13       Impact factor: 21.405

Review 4.  Spectrum of mutations in cystic fibrosis.

Authors:  G R Cutting
Journal:  J Bioenerg Biomembr       Date:  1993-02       Impact factor: 2.945

5.  Analysis of 14 cystic fibrosis mutations in five south European populations.

Authors:  V Nunes; P Gasparini; G Novelli; A Gaona; A Bonizzato; F Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.

Authors:  M Nemeti; J P Johnson; Z Papp; E Louie
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

7.  Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.

Authors:  Santosh V Suryavanshi; Shweta M Jadhav; Kody L Anderson; Panagiotis Katsonis; Olivier Lichtarge; Bradley K McConnell
Journal:  Am J Physiol Heart Circ Physiol       Date:  2018-03-30       Impact factor: 4.733
  7 in total

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