- Clinical Features Reflect Exon Sites of EGFR Mutations in Patients with Resected Non-Small-Cell Lung Cancer
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Na II, Rho JK, Choi YJ, Kim CH, Koh JS, Ryoo BY, Yang SH, Lee JC
- KMID: 1778343
- J Korean Med Sci.
- 2007 Jun;22(3):393-399.
- doi: 10.3346/jkms.2007.22.3.393
The aim of the current study was to determine the clinical significance according to the subtypes of epidermal growth factor receptor (EGFR) mutations and presence of KRAS mutations in operable... -
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- A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene
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Song KS, Kim HK, Song JW, Choi JR, Park YS
- KMID: 720637
- Yonsei Med J.
- 2001 Jun;42(3):364-366.
- doi: 10.3349/ymj.2001.42.3.364
Protein C is a vitamin K dependent serine protease zymogen, which has a regulatory influence over the coagulation cascade via the inhibition of factors Va and VIIIa. Hereditary protein C... -
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- Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
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Kim JS, Lee KS, Kim YI, Lee KH, Kim HT
- KMID: 1779486
- Yonsei Med J.
- 2003 Apr;44(2):336-339.
- doi: 10.3349/ymj.2003.44.2.336
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom... -
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- A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
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Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK
- KMID: 1785760
- J Korean Med Sci.
- 2007 Dec;22(6):998-1001.
- doi: 10.3346/jkms.2007.22.6.998
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene.... -
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