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1 A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Borum Sagong, Jeong-In Baek, Kyu-Yup Lee, Un-Kyung Kim
Clin Exp Otorhinolaryngol.2017;10(1):50-55.   Published online 2016 July 7     DOI: http://dx.doi.org/10.21053/ceo.2016.00430
      
2 Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
Nasrin Yazdanpanahi, Mohammad Amin Tabatabaiefar, Effat Farrokhi, Narges Abdian, Nader Bagheri, Shirin Shahbazi, Zahra Noormohammadi, Morteza Hashemzadeh Chaleshtori
Clin Exp Otorhinolaryngol.2013;6(4):201-208.   Published online 2013 November 29     DOI: http://dx.doi.org/10.3342/ceo.2013.6.4.201
      
3 A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB
Young-Eun Kim, Hyung-Doo Park, Mi-Ae Jang, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Sung Yoon Cho, Dong-Kyu Jin
Ann Lab Med.2013;33(3):221-224.   Published online 2013 April 17     DOI: http://dx.doi.org/10.3343/alm.2013.33.3.221
      
4 Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
Hye In Woo, Hyung-Doo Park, Yong-Wha Lee, Dong Hwan Lee, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim
Korean J Lab Med.2011;31(1):54-60.   Published online 2011 January 10     DOI: http://dx.doi.org/10.3343/kjlm.2011.31.1.54
      
5 Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
Chang-Hun Park, Mee Jeong Lee, Hee-Jin Kim, Gunsong Lee, Joo-won Park, Yong-woo Cinn
J Korean Med Sci.2010;25(12):1818-1820.   Published online 2010 November 24     DOI: http://dx.doi.org/10.3346/jkms.2010.25.12.1818
      
6 Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
Dong-Hee Kang, Dong Hwan Lee, Yong-Hee Hong, Seung-Tae Lee, Byung Ryul Jeon, You Kyoung Lee, Chang-Seok Ki, Yong-Wha Lee
Korean J Lab Med.2010;30(5):516-520.   Published online 2010 January 14     DOI: http://dx.doi.org/10.3343/kjlm.2010.30.5.516
   

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