Compound heterozygosity for ΔF508 and F508C: A cautionary note on the molecular diagnosis of cystic fibrosis

[1]  J. Lieberman,et al.  Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: no association with schizophrenia. , 1994, American journal of medical genetics.

[2]  M. Claustres,et al.  A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene. , 1994, American journal of human genetics.

[3]  E. Nieschlag,et al.  Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens. , 1993, American journal of human genetics.

[4]  M. Macek,et al.  Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. , 1992, American journal of human genetics.

[5]  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.

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

[7]  A. Beaudet,et al.  Genotyping errors with the polymerase chain reaction. , 1990, The New England journal of medicine.

[8]  L. Tsui,et al.  Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis , 1989, Science.

[9]  T. Dörk,et al.  A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator , 1992, Human mutation.