Literature DB >> 2301405

Rapid nonradioactive detection of the major cystic fibrosis mutation.

J Rommens, B S Kerem, W Greer, P Chang, L C Tsui, P Ray.   

Abstract

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Year:  1990        PMID： 2301405      PMCID： PMC1684986     

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


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  3 in total

1.  A PCR artifact: generation of heteroduplexes.

Authors:  C M Nagamine; K Chan; Y F Lau
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

2.  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.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  3 in total
  61 in total

1.  Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis.

Authors:  Sharon J Durfy; Andrea Page; Barry Eng; Patricia L Chang; John S Waye
Journal:  J Genet Couns       Date:  1994-06       Impact factor: 2.537

2.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

3.  Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.

Authors:  M Macek; L Ladanyi; J Bürger; A Reis
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

4.  Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.

Authors:  M Super; M J Schwarz
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

5.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

6.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

7.  Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.

Authors:  R G Gregg; B S Wilfond; P M Farrell; A Laxova; D Hassemer; E H Mischler
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

8.  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

9.  Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Authors:  J Zielenski; T M Fujiwara; D Markiewicz; A J Paradis; A I Anacleto; B Richards; R H Schwartz; K W Klinger; L C Tsui; K Morgan
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

10.  Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.

Authors:  U Jung; U Urner; K Grade; C Coutelle
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132
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