Literature DB >> 2323051

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.

K J Friedman1, W E Highsmith, T W Prior, T R Perry, L M Silverman.   

Abstract

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Year:  1990        PMID： 2323051

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  4 in total

1.  Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Authors:  D Abeliovich; I P Lavon; I Lerer; T Cohen; C Springer; A Avital; G R Cutting
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.

Authors:  L Orozco; M Salcedo; J L Lezana; M Chávez; H Valdez; M Moreno; A Carnevale
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

3.  Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

Authors:  Irene Paradisi; Alba Hernández; Sergio Arias
Journal:  J Hum Genet       Date:  2007-12-22       Impact factor: 3.172

4.  Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Authors:  H G Eiken; E Odland; H Boman; L Skjelkvåle; L F Engebretsen; J Apold
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971
  4 in total

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