Compound heterozygosity for ΔF508 and F508C: A cautionary note on the molecular diagnosis of cystic fibrosis
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E. Denamur | J. Oury | J. Elion | O. Pascaud | C. Guidal | S. Vuillaumier | R. Dufourcq
[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.