Literature DB >> 2300168

PCR test for cystic fibrosis deletion.

A Ballabio, R A Gibbs, C T Caskey.   

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Year:  1990        PMID： 2300168     DOI： 10.1038/343220a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  22 in total

1.  Mode of action and application of Scorpion primers to mutation detection.

Authors:  N Thelwell; S Millington; A Solinas; J Booth; T Brown
Journal:  Nucleic Acids Res       Date:  2000-10-01       Impact factor: 16.971

2.  Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families.

Authors:  J Larsen; A Georghiou; F D Kury; M Götz; K Sanz; K Dobianer; J Spona
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

3.  Cystic fibrosis screening and community genetics.

Authors:  B Modell
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

4.  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

5.  Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction.

Authors:  N Fischel-Ghodsian; P C Hirsch; M C Bohlman
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

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

Review 7.  Biochemical neonatal screening.

Authors:  B Modell
Journal:  BMJ       Date:  1990-06-30

8.  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

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

Authors: 
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

10.  Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Authors:  V Brancolini; L Cremonesi; E Belloni; E Pappalardo; R Bordoni; M Seia; S Russo; R Padoan; A Giunta; M Ferrari
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132
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