Literature DB >> 7683628

Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

B Mercier1, W Lissens, G Novelli, L Kalaydjieva, M De Arce, N Kapranov, N C Klain, G Lenoir, P Chauveau, C Lenaerts.   

Abstract

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Year:  1993        PMID： 7683628     DOI： 10.1006/geno.1993.1183

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


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  9 in total

Review 1.  CFTR: domains, structure, and function.

Authors:  S Devidas; W B Guggino
Journal:  J Bioenerg Biomembr       Date:  1997-10       Impact factor: 2.945

2.  Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.

Authors:  J E Mickle; M I Milewski; M Macek; G R Cutting
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

3.  Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Authors:  Kristina V Krasnov; Maria Tzetis; Jie Cheng; William B Guggino; Garry R Cutting
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

4.  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.  Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

Authors:  C Verlingue; B Mercier; I Lecoq; M P Audrézet; D Laroche; G Travert; C Férec
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

6.  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

7.  Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Authors:  B Mercier; C Verlingue; W Lissens; S J Silber; G Novelli; M Bonduelle; M P Audrézet; C Férec
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

8.  A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

Authors:  B Mercier; W Lissens; G Novelli; L Kalaydjieva; M de Arce; N Kapranov; N Canki Klain; X Estivill; A Palacio; S Cashman
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

9.  Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

Authors:  Wen-Bin He; Yue-Qiu Tan; Xiao Hu; Wen Li; Bo Xiong; Ke-Li Luo; Fei Gong; Guang-Xiu Lu; Ge Lin; Juan Du
Journal:  BMC Med Genet       Date:  2018-01-24       Impact factor: 2.103
  9 in total

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