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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
Hyun-Jung Cho, Mee-Yong Shin, Kang-Mo Ahn, Sang Il Lee, Hee-Jin Kim, Chang-Seok Ki, Jong-Won Kim
J Korean Med Sci.2006;21(5):790-793. Published online 2006 October 31
DOI: http://dx.doi.org/10.3346/jkms.2006.21.5.790
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2 |
Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients
Heung-Bum Oh, Joon Seok Park, Woochang Lee, Soo Jin Yoo, Jin Hyuk Yang, Sun-Young Oh
J Korean Med Sci.2004;19(2):218-222. Published online 2004 April 30
DOI: http://dx.doi.org/10.3346/jkms.2004.19.2.218
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X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with γc Chain Gene Mutation and Subsequent Genetic Counseling
Eun-Kyeong Jo, Satoru Kumaki, Du Wei, Shigeru Tsuchiya, Hirokazu Kanegane, Chang-Hwa Song, Ha Young Noh, Young Ok Kim, So Yeon Kim, Hae Yul Chung, Yoon Ha Kim, Hoon Kook
J Korean Med Sci.2004;19(1):123-126. Published online 2004 February 28
DOI: http://dx.doi.org/10.3346/jkms.2004.19.1.123
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