Literature DB >> 7505693

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.

L Saba1, G B Leoni, A Meloni, V Faà, A Cao, M C Rosatelli.   

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Year:  1993        PMID： 7505693     DOI： 10.1093/hmg/2.10.1739

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


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  5 in total

1.  A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

Authors:  Valeria Faà; Pietro Pellegrini Bettoli; Maria Demurtas; Maurizio Zanda; Vincenzina Ferri; Antonio Cao; Maria Cristina Rosatelli
Journal:  J Mol Diagn       Date:  2006-09       Impact factor: 5.568

2.  Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment.

Authors:  M Cheung; M H Akabas
Journal:  Biophys J       Date:  1996-06       Impact factor: 4.033

3.  Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Authors:  Rossella Giuliani; Ivana Antonucci; Isabella Torrente; Paola Grammatico; Giandomenico Palka; Liborio Stuppia
Journal:  Asian J Androl       Date:  2010-07-26       Impact factor: 3.285

4.  Non-pore lining amino acid side chains influence anion selectivity of the human CFTR Cl- channel expressed in mammalian cell lines.

Authors:  P Linsdell; S X Zheng; J W Hanrahan
Journal:  J Physiol       Date:  1998-10-01       Impact factor: 5.182

5.  Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Authors:  V Brancolini; L Cremonesi; E Belloni; E Pappalardo; R Bordoni; M Seia; S Russo; R Padoan; A Giunta; M Ferrari
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132
  5 in total

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