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1 Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
Yun Seok Lee, Mi Jin Kim, Chang Seok Ki, Yoo Min Lee, Yoon Lee, Yon Ho Choe
Pediatr Gastroenterol Hepatol Nutr.2012;15(2):122-126.   Published online 2012 June 30     DOI: http://dx.doi.org/10.5223/pghn.2012.15.2.122
      
2 Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
Dae-Hyun Ko, Ho Eun Chang, Sang Hoon Song, Hoil Yoon, Kyoung Un Park, Junghan Song
Korean J Lab Med.2011;31(4):294-297.   Published online 2011 October 3     DOI: http://dx.doi.org/10.3343/kjlm.2011.31.4.294
      
3 Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR
Tae-Mi Lee, Sang-Wun Kim, Kwang-Soo Lee, Hyun-Seok Jin, Soo Kyung Koo, Inho Jo, Seongman Kang, Sung-Chul Jung
J Korean Med Sci.2004;19(6):870-873.   Published online 2004 December 31     DOI: http://dx.doi.org/10.3346/jkms.2004.19.6.870
      
4 Living-Related Liver Transplantation with Heterozygote Carrier Graft in Children with Wilson Disease
Jin Taek Kim, Soo Hee Chang, Bo Hwa Choi, Kyung Mo Kim, Han Wook Yoo, Young Joo Lee, Sung Gyu Lee
Korean J Pediatr Gastroenterol Nutr.2003;6(2):161-166.   Published online 2003 September 30     DOI: http://dx.doi.org/10.5223/kjpgn.2003.6.2.161
      
5 Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote
Hye Ran Yang, Jeong Eun Kim, Jae Sung Ko, Jung Han Song, Sung Sup Park, Jeong Kee Seo
Korean J Pediatr Gastroenterol Nutr.2003;6(1):84-89.   Published online 2003 March 31     DOI: http://dx.doi.org/10.5223/kjpgn.2003.6.1.84
      

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