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1989 1
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Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Grody WW, et al. Genet Med. 2001 Mar-Apr;3(2):149-54. doi: 10.1097/00125817-200103000-00010. Genet Med. 2001. PMID: 11280952 Free article. No abstract available.
delta F508 in cystic fibrosis: willing but not able.
Southern KW. Southern KW. Arch Dis Child. 1997 Mar;76(3):278-82. doi: 10.1136/adc.76.3.278. Arch Dis Child. 1997. PMID: 9135274 Free PMC article. Review. No abstract available.
CFTR!
Fuller CM, Benos DJ. Fuller CM, et al. Am J Physiol. 1992 Aug;263(2 Pt 1):C267-86. doi: 10.1152/ajpcell.1992.263.2.C267. Am J Physiol. 1992. PMID: 1381146 Review.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.