Literature DB >> 2378364

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.

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Year:  1990        PMID： 2378364      PMCID： PMC1683705     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  3 in total

1.  PCR test for cystic fibrosis deletion.

Authors:  A Ballabio; R A Gibbs; C T Caskey
Journal:  Nature       Date:  1990-01-18       Impact factor: 49.962

2.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  3 in total
  39 in total

1.  Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors:  M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

2.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Authors:  H Guillermit; P Fanen; C Ferec
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

4.  Frequency of the cystic fibrosis mutation delta F508 in Algeria.

Authors:  G Lucotte; E Barré; S Berriche
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

5.  Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.

Authors:  Alexandra Neagu; Adela-Ioana Mocanu; Alexandru Bonciu; Gabriella Coadă; Horia Mocanu
Journal:  Exp Ther Med       Date:  2021-04-14       Impact factor: 2.447

6.  CFTR mutations in Chilean cystic fibrosis patients.

Authors:  J Rios; O Orellana; M Aspillaga; I Avendano; I Largo; N Riveros
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

7.  Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

Authors:  E Kanavakis; M Tzetis; T Antoniadi; J Traeger-Synodinos; S Doudounakis; G Adam; N Matsaniotis; C Kattamis
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

8.  Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.

Authors:  David A Zeevi; Fouad Zahdeh; Yehuda Kling; Shai Carmi; Gheona Altarescu
Journal:  J Assist Reprod Genet       Date:  2019-01-08       Impact factor: 3.412

9.  A novel mutation in exon 3 of the CFTR gene.

Authors:  H Guillermit; M Jéhanne; I Quéré; M P Audrézet; B Mercier; C Férec
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

Review 10.  Spectrum of mutations in cystic fibrosis.

Authors:  G R Cutting
Journal:  J Bioenerg Biomembr       Date:  1993-02       Impact factor: 2.945
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