Literature DB >> 1377659

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

K Wagner1, M Zach, W Rosenkranz.   

Abstract

The frequency of the major mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was analyzed for 113 Austrian cystic fibrosis (CF) patients. An overall frequency of 55% for delta F508 was found with values of 72% and 13% for patients with pancreatic insufficiency (CF-PI) and those with pancreatic sufficiency (CF-PS), respectively. Furthermore, the distribution of the alleles of the closely linked DNA markers XV2c/KM19/MP6d-9 in our families is described.

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Year:  1992        PMID： 1377659     DOI： 10.1007/bf00194318

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


  10 in total

1.  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

2.  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

3.  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

4.  DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

Authors:  C L Rosenbloom; B S Kerem; J M Rommens; L C Tsui; B Wainwright; R Williamson; W E O'Brien; A L Beaudet
Journal:  Nucleic Acids Res       Date:  1989-09-12       Impact factor: 16.971

5.  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

6.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

7.  Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation.

Authors:  A Huth; X Estivill; K Grade; H Billwitz; A Speer; A Rosenthal; R Williamson; M Ramsay; C Coutelle
Journal:  Nucleic Acids Res       Date:  1989-09-12       Impact factor: 16.971

8.  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

9.  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

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
  10 in total
  2 in total

1.  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

2.  Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.

Authors:  Bin Yang; Xi Wang; Wei Zhang; Hongjun Li; Binbin Wang
Journal:  Mol Genet Genomic Med       Date:  2018-11-18       Impact factor: 2.183
  2 in total

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