Literature DB >> 7520798

Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

T Shoshani1, A Augarten, J Yahav, E Gazit, B Kerem.   

Abstract

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Year:  1994        PMID： 7520798     DOI： 10.1093/hmg/3.4.657

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


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  6 in total

1.  Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

Authors:  E Kerem; Y M Kalman; Y Yahav; T Shoshani; D Abeliovich; A Szeinberg; J Rivlin; H Blau; A Tal; L Ben-Tur
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

2.  CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.

Authors:  N Rave-Harel; I Madgar; R Goshen; M Nissim-Rafinia; A Ziadni; A Rahat; O Chiba; Y M Kalman; C Brautbar; D Levinson
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

3.  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

4.  Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Authors:  Doron M Behar; Ori Inbar; Michal Shteinberg; Michal Gur; Huda Mussaffi; David Shoseyov; Moshe Ashkenazi; Soliman Alkrinawi; Concetta Bormans; Fahed Hakim; Meir Mei-Zahav; Malena Cohen-Cymberknoh; Adi Dagan; Dario Prais; Ifat Sarouk; Patrick Stafler; Bat El Bar Aluma; Gidon Akler; Elie Picard; Micha Aviram; Ori Efrati; Galit Livnat; Joseph Rivlin; Lea Bentur; Hannah Blau; Eitan Kerem; Amihood Singer
Journal:  Mol Genet Genomic Med       Date:  2017-02-19       Impact factor: 2.183

5.  Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.

Authors:  Angélica Martínez-Hernández; Julieta Larrosa; Francisco Barajas-Olmos; Humberto García-Ortíz; Elvia C Mendoza-Caamal; Cecilia Contreras-Cubas; Elaheh Mirzaeicheshmeh; José Luis Lezana; Lorena Orozco
Journal:  BMC Med Genomics       Date:  2019-05-22       Impact factor: 3.063

6.  A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.

Authors:  Hassan Chami; Samer Abou Arbid; Rebecca Badra; Chantal Farra
Journal:  Ann Thorac Med       Date:  2017 Oct-Dec       Impact factor: 2.219
  6 in total

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