- Genetic Analysis of 10 Unrelated Korean Families with p22-phox-deficient Chronic Granulomatous Disease: An Unusually Identical Mutation of the CYBA Gene on Jeju Island, Korea
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Kim YM, Park JE, Kim JY, Lim HK, Nam JK, Cho M, Shin KS
- KMID: 1783131
- J Korean Med Sci.
- 2009 Dec;24(6):1045-1050.
- doi: 10.3346/jkms.2009.24.6.1045
Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive... -
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- DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
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Park KJ, Park HK, Kim YJ, Lee KR, Park JH, Park JH, Park HD, Lee SY, Kim JW
- KMID: 2373514
- Ann Lab Med.
- 2016 Mar;36(2):145-153.
- doi: 10.3343/alm.2016.36.2.145
BACKGROUND: Most cases with congenital hypothyroidism (CH) are usually sporadic, while about 20% of the cases are caused by genetic defects. Little information is available regarding the mutation incidence and... -
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