Literature DB >> 1370810

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

N Morral1, E Girbau, J Zielenski, V Nunes, T Casals, L C Tsui, X Estivill.   

Abstract

We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B.

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Year:  1992        PMID： 1370810     DOI： 10.1007/bf00197276

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


  3 in total

1.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

2.  CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

Authors:  N Morral; V Nunes; T Casals; X Estivill
Journal:  Genomics       Date:  1991-07       Impact factor: 5.736

3.  Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; R Rozmahel; D Bozon; B Kerem; Z Grzelczak; J R Riordan; J Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736
  3 in total
  7 in total

1.  Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.

Authors:  T Casals; V Nunes; A Palacio; J Giménez; A Gaona; N Ibáñez; N Morral; X Estivill
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

2.  Active cascade testing for carriers of cystic fibrosis gene.

Authors:  M Super; M J Schwarz; G Malone; T Roberts; A Haworth; G Dermody
Journal:  BMJ       Date:  1994-06-04

3.  Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness.

Authors:  M D Ramos; C Lalueza; E Girbau; A Pérez-Pérez; S Quevedo; D Turbón; X Estivill
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

4.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

5.  Complete detection of mutations in cystic fibrosis patients of Native American origin.

Authors:  B Mercier; O Raguénès; X Estivill; N Morral; G C Kaplan; M McClure; T A Grebe; D Kessler; P F Pignatti; C Marigo
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

6.  Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Authors:  B Mercier; C Verlingue; W Lissens; S J Silber; G Novelli; M Bonduelle; M P Audrézet; C Férec
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population.

Authors:  Valeria Mattiangeli; Anthony W Ryan; Ross McManus; Daniel G Bradley
Journal:  Genome Biol       Date:  2006-08-11       Impact factor: 13.583
  7 in total

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