Literature DB >> 1377660

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

J Larsen, A Georghiou, F D Kury, M Götz, K Sanz, K Dobianer, J Spona.   

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Year:  1992        PMID： 1377660     DOI： 10.1007/bf00194327

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  15 in total

1.  A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.

Authors:  L E GIBSON; R E COOKE
Journal:  Pediatrics       Date:  1959-03       Impact factor: 7.124

2.  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

3.  Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles.

Authors:  X Estivill; N Morral; T Casals; V Nunes
Journal:  Lancet       Date:  1991-08-17       Impact factor: 79.321

4.  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

5.  Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.

Authors:  J L Serre; B Simon-Bouy; E Mornet; B Jaume-Roig; A Balassopoulou; M Schwartz; A Taillandier; J Boué; A Boué
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

6.  Remarks on the article "Use of Linkage Equilibrium Data in Prenatal Diagnosis of Cystic Fibrosis" by L. Strain et al.

Authors:  G J te Meerman; C H Buys
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

7.  Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism.

Authors:  G L Feldman; R Williamson; A L Beaudet; W E O'Brien
Journal:  Lancet       Date:  1988-07-09       Impact factor: 79.321

8.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

9.  Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.

Authors:  K Wagner; M Zach; W Rosenkranz
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

10.  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
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  1 in total

1.  Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.

Authors:  J Larsen; S Campbell; E B Faragher; M Götz; I Eichler; S Waldherr; K Dobianer; J Spona
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183
  1 in total

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