Literature DB >> 1710601

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death.

T E Ivaschenko1, M B White, M Dean, V S Baranov.   

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Year:  1991        PMID： 1710601     DOI： 10.1016/0888-7543(91)90517-i

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


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  9 in total

1.  Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Authors:  L Osborne; G Santis; M Schwarz; K Klinger; T Dörk; I McIntosh; M Schwartz; V Nunes; M Macek; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells.

Authors:  B H Koller; H S Kim; A M Latour; K Brigman; R C Boucher; P Scambler; B Wainwright; O Smithies
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

3.  Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.

Authors:  T E Ivaschenko; V S Baranov; M Dean
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

Review 4.  Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.

Authors:  V S Baranov
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

5.  Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells.

Authors:  J R Dorin; P Dickinson; E Emslie; A R Clarke; L Dobbie; M L Hooper; S Halford; B J Wainwright; D J Porteous
Journal:  Transgenic Res       Date:  1992-03       Impact factor: 2.788

6.  Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Authors:  T Shoshani; A Augarten; E Gazit; N Bashan; Y Yahav; Y Rivlin; A Tal; H Seret; L Yaar; E Kerem
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

7.  Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Authors:  G R Cutting; S M Curristin; E Nash; B J Rosenstein; I Lerer; D Abeliovich; A Hill; C Graham
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

8.  Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.

Authors:  K Boteva; E Papageorgiou; C Georgiou; M Angastiniotis; L T Middleton; C D Constantinou-Deltas
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

9.  Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Authors:  Tinatin Tkemaladze; Eka Kvaratskhelia; Mariam Ghughunishvili; Michael J Lentze; Elene Abzianidze; Volha Skrahina; Arndt Rolfs
Journal:  Respir Med Case Rep       Date:  2022-10-05
  9 in total

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