Bibliografia F508C

Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL. Benign missense variations in the cystic fibrosis gene. Am J Hum Genet. 1990 Oct;47(4):611-5.

Kalin N, Dork T, Tummler B. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
Hum Mutat. 1992;1(3):204-10.

Macek M Jr, Ladanyi L, Burger J, Reis A. Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. Am J Hum Genet. 1992 Nov;51(5):1173-4. No abstract available.

Meschede D, Eigel A, Horst J, Nieschlag E. 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. Am J Hum Genet. 1993 Jul;53(1):292-3. No abstract available.

Desgeorges M, Kjellberg P, Demaille J, Claustres M. A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene. Am J Hum Genet. 1994 Feb;54(2):384-5. No abstract available.

Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet. 1997 Sep;100(3-4):365-77.