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High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
Kim JM, Choi JH, Lee JH, Kim GH, Lee BH, Kim HS, Shin JH, Shin CH, Kim CJ, Yu J, Lee DY, Cho WK, Suh BK, Lee JE, Chung HR, Yoo HW. Kim JM, et al. Among authors: kim gh, kim cj, kim hs. Eur J Endocrinol. 2011 Nov;165(5):771-8. doi: 10.1530/EJE-11-0597. Epub 2011 Aug 16. Eur J Endocrinol. 2011. PMID: 21846663
Low prevalence of classical galactosemia in Korean population.
Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Among authors: kim gh, kim jm, kim jh. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919
6,057 results