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A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. Dreyer B, et al. Among authors: kimberling wj. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Am J Hum Genet. 2001. PMID: 11402400 Free PMC article.
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. Pennings RJ, et al. Among authors: kimberling wj. Hum Mutat. 2004 Aug;24(2):185. doi: 10.1002/humu.9259. Hum Mutat. 2004. PMID: 15241801
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: kimberling wj. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.
231 results