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J R Soc Med. 1992; 85(Suppl 19): 6–8.
PMCID: PMC1295446

The gene defect in cystic fibrosis and clinical applications of the knowledge.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Schumm JW, Eiberg H, Mohr J, Kennedy D, Plavsic N, et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985 Nov 29;230(4729):1054–1057. [PubMed]
  • Super M, Ivinson A, Schwarz M, Giles L, Elles RG, Read AP, Harris R. Clinic experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probes. Lancet. 1987 Oct 3;2(8562):782–784. [PubMed]
  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. [PubMed]
  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. [PubMed]
  • Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. [PubMed]
  • Gregory RJ, Rich DP, Cheng SH, Souza DW, Paul S, Manavalan P, Anderson MP, Welsh MJ, Smith AE. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol Cell Biol. 1991 Aug;11(8):3886–3893. [PMC free article] [PubMed]
  • Super M, Schwarz MJ. Mutations of the cystic fibrosis gene locus within the population of the Northwest of England. Eur J Pediatr. 1992 Feb;151(2):108–111. [PubMed]

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