Literature DB >> 1352276

A point mutation changes the polymorphisms pattern in a cystic fibrosis carrier family.

E Fernández, A Santón, J Benitez.   

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Year:  1992        PMID： 1352276     DOI： 10.1007/bf00194328

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


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  6 in total

1.  Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.

Authors:  M Chillón; V Nunes; T Casals; F J Giménez; E Fernández; J Benítez; X Estivill
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

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.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification.

Authors:  C Williams; R Williamson; C Coutelle; F Loeffler; J Smith; A Ivinson
Journal:  Lancet       Date:  1988-07-09       Impact factor: 79.321

5.  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

6.  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
  6 in total

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