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Læknablaðið - 15.12.2000, Qupperneq 21

Læknablaðið - 15.12.2000, Qupperneq 21
FRÆÐIGREINAR /ERFÐAGREINING SD, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNBl) hearing loss. Am J Hum Genet 1998; 62:792-9. 22. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mut 1998;11:387-94. 23. Lench N, Housman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415. 24. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nilsen K, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 2000; 8:19-23. 25. The Human Gene Mutation Database, Cardiff: http://www.uwcm.ac.uk/uwcm/mg/ns 26. Kumar NM, Gilula NB. The gap junction communication channel. Cell 1996; 84: 381-8. 27. Yeager M, Unger VM, Falk MM. 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Proc Natl Acad Sci USA 1981; 78: 5759-63. 37. Lee SW, Tomasetto C, Paul D, Keyomarsi K, Sanger R. Transcriptional downregulation of gap-junction proteins block junctional communication in human mammary tumor cell lines. JCell Biol 1992; 118:1213-21. 38. Kiang DT, Jin N, T\i ZJ, Lin HH. Upstream genomic sequence of the human connexin 26 gene. Gene 1997; 199:165-71. 39. Del Tito BJ, Poff III HE, Novotny MA, Cartledge DM, Walker RI 2nd, Earl CD, et al. Automated fluorescent analysis procedure for enzymatic mutation detection. Clin Chem 1998; 44: 731-9. 40. Murigia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, et al. Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999; 36:829-32. 41. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al. Clinical features of the prevalent form of childhood deafness, DFNBl, due to a connexin 26 gene defect: implications for genetic counselling. Lancet 1999; 353: 1298- 303. 42. 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N Engl J Med 1998; 338:548- 50. 47. Brooker JK, Zhou Z, Silvermen LM, Rohlfs EM. Frequency of GJB2 (connexin 26) in African American and Caucasian populations in North Carolina. Am J Hum Genet 1999; 65/Suppl: A198. 48. Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe Ki, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Hum Genet 2000; 90:141-5. 49. Martin PE, L Coleman S, Casalotti SO, Forge A, Evans WH. Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 1999; 8:2369-76. 50. White TW, Deans MR, Kelsell DP, Paul DL. Connexin mutations in deafness. Nature 1998; 394:630-1. 51. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJH. Connexin mutations and hearing loss. Nature 1998; 391:32. Læknablaðið 2000/86 839
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