KI Chang-Seok | Department of Clinical Pathology, Sungkyunkwan University School of Medicine

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著作論文

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
Novel interleukin 1β polymorphism increased the risk of gastric cancer in a Korean population
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B
UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer : the importance of whole-gene sequencing : This article has been corrected since advance Online Publication, and a corrigendum is also printed in this issue
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

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