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Literature DB >> 7517268

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.

D Bozon¹, J Zielenski, F Rininsland, L C Tsui.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 1994 PMID： 7517268 DOI： 10.1002/humu.1380030329

Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878

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12 in total

1. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.

Authors: A Bonizzato; L Bisceglia; C Marigo; E Nicolis; C Bombieri; C Castellani; G Borgo; L Zelante; G Mastella; G Cabrini
Journal: Hum Genet Date: 1995-04 Impact factor: 4.132

2. Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Authors: G Castaldo; E Rippa; G Sebastio; V Raia; P Ercolini; G de Ritis; D Salvatore; F Salvatore
Journal: J Med Genet Date: 1996-06 Impact factor: 6.318

Review 3. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors: C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal: J Cyst Fibros Date: 2008-05 Impact factor: 5.482

4. Combination potentiator ('co-potentiator') therapy for CF caused by CFTR mutants, including N1303K, that are poorly responsive to single potentiators.

Authors: Puay-Wah Phuan; Jung-Ho Son; Joseph-Anthony Tan; Clarabella Li; Ilaria Musante; Lorna Zlock; Dennis W Nielson; Walter E Finkbeiner; Mark J Kurth; Luis J Galietta; Peter M Haggie; Alan S Verkman
Journal: J Cyst Fibros Date: 2018-06-12 Impact factor: 5.482

5. Real-time detection of DNA hybridization and melting on oligonucleotide arrays by using optical wave guides.

Authors: D I Stimpson; J V Hoijer; W T Hsieh; C Jou; J Gordon; T Theriault; R Gamble; J D Baldeschwieler
Journal: Proc Natl Acad Sci U S A Date: 1995-07-03 Impact factor: 11.205

6. Novel amino-carbonitrile-pyrazole identified in a small molecule screen activates wild-type and ΔF508 cystic fibrosis transmembrane conductance regulator in the absence of a cAMP agonist.

Authors: Wan Namkung; Jinhong Park; Yohan Seo; A S Verkman
Journal: Mol Pharmacol Date: 2013-06-20 Impact factor: 4.436

7. 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