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Is the novel SCKL3 at 14q23 the predominant Seckel locus?
Kilinç MO, Ninis VN, Ugur SA, Tüysüz B, Seven M, Balci S, Goodship J, Tolun A. Kilinç MO, et al. Eur J Hum Genet. 2003 Nov;11(11):851-7. doi: 10.1038/sj.ejhg.5201057. Eur J Hum Genet. 2003. PMID: 14571270
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I. Kilinç MO, et al. J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307. J Med Genet. 2000. PMID: 10819640 Free PMC article. No abstract available.
54 results