Literature DB >> 7684643

Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.

D Glavac1, M Ravnik-Glavac, M Dean.   

Abstract

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Year:  1993        PMID： 7684643     DOI： 10.1093/hmg/2.3.315

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


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  3 in total

1.  Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

Authors:  M P Audrézet; N Canki-Klain; B Mercier; D Bracar; C Verlingue; C Férec
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

2.  Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

Authors:  Sofia S Ramalho; Iris A L Silva; Margarida D Amaral; Carlos M Farinha
Journal:  Int J Mol Sci       Date:  2021-12-21       Impact factor: 5.923

Review 3.  A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).

Authors:  Joana Rosa; Patrícia Gaspar-Silva; Paula Pacheco; Conceição Silva; Cláudia C Branco; Barbara S Vieira; Alexandra Carreiro; Juan Gonçalves; Luisa Mota-Vieira
Journal:  BMC Pediatr       Date:  2020-01-03       Impact factor: 2.125
  3 in total

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