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High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
Storm K, Moens E, Vits L, De Vlieger H, Delaere G, D'Hollander M, Wuyts W, Biervliet M, Van Schil L, Desager K, Nöthen MM. Storm K, et al. J Cyst Fibros. 2007 Nov 30;6(6):371-5. doi: 10.1016/j.jcf.2006.10.013. Epub 2007 May 3. J Cyst Fibros. 2007. PMID: 17481968 Free article.
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: storm k. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Vits L, Beckers D, Craen M, de Beaufort C, Vanfleteren E, Dahan K, Nollet A, Vanhaverbeke G, Imschoot SV, Bourguignon JP, Beauloye V, Storm K, Massa G, Giri M, Nobels F, De Schepper J, Rooman R, Van den Bruel A, Mathieu C, Wuyts W. Vits L, et al. Among authors: storm k. Clin Genet. 2006 Oct;70(4):355-9. doi: 10.1111/j.1399-0004.2006.00686.x. Clin Genet. 2006. PMID: 16965331 Free article. No abstract available.
140 results