- Molecular screening for fragile x syndrome in mentally handicapped children in korea
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Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK
- KMID: 1129896
- J Korean Med Sci.
- 2001 Jun;16(3):271-275.
- doi: 10.3346/jkms.2001.16.3.271
Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This... -
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- X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea
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Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, Park JK, Hwang TJ, Kook H
- KMID: 2157605
- J Korean Med Sci.
- 2002 Feb;17(1):116-120.
- doi: 10.3346/jkms.2002.17.1.116
X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of... -
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- X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling
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Jo EK, Kumaki S, Wei D, Tsuchiya S, Kanegane H, Song CH, Noh HY, Kim YO, Kim SY, Chung HY, Kim YH, Kook H
- KMID: 1785705
- J Korean Med Sci.
- 2004 Feb;19(1):123-126.
- doi: 10.3346/jkms.2004.19.1.123
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for... -
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