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1 The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
Seo-Jin Park, Choon Sik Yoon, Hui-Wan Park, Jong Rak Choi, Jong Shin Chung, Kyung-A Lee
J Korean Med Sci.2009;24(4):737-740.   Published online 2009 July 30     DOI: http://dx.doi.org/10.3346/jkms.2009.24.4.737
      
2 ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva
Dong Yeon Lee, Tae-Joon Cho, Hye Ran Lee, Moon Seok Park, Won Joon Yoo, Chin Youb Chung, In Ho Choi
J Korean Med Sci.2009;24(3):433-437.   Published online 2009 June 12     DOI: http://dx.doi.org/10.3346/jkms.2009.24.3.433
      
3 A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
Sook-Kyung Park, Chun-Soo Kim, Dae-Kyu Song, Joo-Young Kim, In-Jang Choi, Dae-Kwang Kim
J Korean Med Sci.2007;22(6):998-1001.   Published online 2007 December 20     DOI: http://dx.doi.org/10.3346/jkms.2007.22.6.998
      

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