Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

[1]  C. Férec,et al.  A polymorphism in intron 20 of the CFTR gene. , 1991, Nucleic acids research.

[2]  M. Devoto,et al.  Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. , 1991, American journal of human genetics.

[3]  T. Dörk,et al.  A HinfI polymorphism in the cystic fibrosis gene CFTR. , 1991, Nucleic acids research.

[4]  X. Estivill,et al.  The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. , 1991, Genomics.

[5]  L. Tsui,et al.  Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. , 1991, Genomics.

[6]  L. Tsui,et al.  Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. , 1991, Genomics.

[7]  X. Estivill,et al.  A tetranucleotide repeat polymorphism in the cystic fibrosis gene , 1991, Human Genetics.

[8]  M. Hodson,et al.  A mutation in the second nucleotide binding fold of the cystic fibrosis gene. , 1991, American journal of human genetics.

[9]  Goossens,et al.  A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin. , 1991, American journal of human genetics.

[10]  F. Collins,et al.  Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[11]  A. Beaudet,et al.  Benign missense variations in the cystic fibrosis gene. , 1990, American journal of human genetics.

[12]  M. Vidaud,et al.  Three point mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis , 1990, Human Genetics.

[13]  C. Férec,et al.  A 3′ splice site consensus sequence mutation in the cystic fibrosis gene , 1990, Human Genetics.

[14]  T. Dörk,et al.  Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population , 1990, Human Genetics.

[15]  K. Klinger,et al.  Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. , 1990, Clinical chemistry.

[16]  L. Tsui,et al.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein , 1990, Nature.

[17]  Michael J. Hartshorn,et al.  Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transport , 1990, Nature.

[18]  M. Goossens,et al.  Haemophilia B: database of point mutations and short additions and deletions, 7th edition , 1990, Nucleic Acids Res..

[19]  D. Cooper,et al.  The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions , 1990, Human Genetics.

[20]  M. Leppert,et al.  Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients , 1990, Cell.

[21]  L. Tsui,et al.  Rapid nonradioactive detection of the major cystic fibrosis mutation. , 1990, American journal of human genetics.

[22]  F. Collins,et al.  Approaches to localizing disease genes as applied to cystic fibrosis. , 1990, Nucleic acids research.

[23]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[24]  X. Estivill,et al.  Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation. , 1989, Nucleic acids research.

[25]  L. Tsui,et al.  DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. , 1989, Nucleic acids research.

[26]  J. Riordan,et al.  Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) : , 2008 .

[27]  M. Baudis,et al.  Modification of enzymatically amplified DNA for the detection of point mutations. , 1989, Nucleic acids research.

[28]  H A Erlich,et al.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[29]  J. Schmidtke,et al.  Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families , 1988, Human Genetics.

[30]  K. Mullis,et al.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. , 1988, Science.

[31]  D. Riesner,et al.  Temperature-gradient gel electrophoresis. Thermodynamic analysis of nucleic acids and proteins in purified form and in cellular extracts. , 1987, Biophysical chemistry.

[32]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[33]  P Chambon,et al.  Isolation of high-molecular-weight DNA from mammalian cells. , 1973, European journal of biochemistry.

[34]  H. Cuppens.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype , 2006, Human Genetics.

[35]  K. Klinger,et al.  Molecular and genetic analyses at the CF locus. , 1991, Advances in experimental medicine and biology.

[36]  P. Reitsma,et al.  Haemophilia B: database of point mutations and short additions and deletions. , 1990, Nucleic acids research.

[37]  L. Tsui,et al.  Identification of the cystic fibrosis gene: genetic analysis. , 1989, Science.

[38]  L. Tsui,et al.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. , 1989, Science.

[39]  M. Gait,et al.  Oligonucleotide synthesis : a practical approach , 1984 .