Literature DB >> 7535745

Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families.

D Hughes1, A Hill, A Redmond, N Nevin, C Graham.   

Abstract

The cystic fibrosis transmembrane conductance regulator gene contains three highly informative microsatellites; IVS8CA, IVS17BTA and IVS17BCA. Fluorescent multiplexes of these microsatellites were assayed in 124 CF families carrying 15 different CFTR mutations, from N. Ireland.

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Year:  1995        PMID： 7535745     DOI： 10.1007/bf00208979

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


  8 in total

1.  A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; D Markiewicz; F Rininsland; J Rommens; L C Tsui
Journal:  Am J Hum Genet       Date:  1991-12       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.  The origin of the major cystic fibrosis mutation (delta F508) in European populations.

Authors:  N Morral; J Bertranpetit; X Estivill; V Nunes; T Casals; J Giménez; A Reis; R Varon-Mateeva; M Macek; L Kalaydjieva
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

4.  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

5.  Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

Authors:  N Morral; V Nunes; T Casals; M Chillón; J Giménez; J Bertranpetit; X Estivill
Journal:  Hum Mol Genet       Date:  1993-07       Impact factor: 6.150

6.  Multiplex PCR amplification of three microsatellites within the CFTR gene.

Authors:  N Morral; X Estivill
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

7.  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

8.  Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.

Authors: 
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878
  8 in total
  2 in total

1.  The Irish cystic fibrosis database.

Authors:  S M Cashman; A Patino; M G Delgado; L Byrne; B Denham; M De Arce
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

2.  Worldwide genetic analysis of the CFTR region.

Authors:  E Mateu; F Calafell; O Lao; B Bonné-Tamir; J R Kidd; A Pakstis; K K Kidd; J Bertranpetit
Journal:  Am J Hum Genet       Date:  2000-12-04       Impact factor: 11.025
  2 in total

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