Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2006-10-01
著者
-
SUH Yeon-Lim
Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine
-
KI Chang-Seok
Department of Clinical Pathology, Sungkyunkwan University School of Medicine
-
Suh Yeon-lim
Department Of Pathology Samsung Medical Center Sungkyunkwan University School Of Medicine
-
Suh Yeon-lim
Department Of Diagnostic Pathology Samsung Medical Center Sungkyunkwan University School Of Medicine
-
Kim Byoung
Department Of Dermatology Seoul National University College Of Medicine
-
An Jae-young
Department Of Neurology Catholic University Of Korea
-
Cho Hyun-jung
Department Of Laboratory Medicine Samsung Medical Center Sungkyunkwan University School Of Medicine
-
Kim Byoung
Department Of Neurology Samsung Medical Center Sungkyunkwan University School Of Medicine
-
Kim Byoung
Department of Chemical Engineering, Dong-A University, Busan 604-714, Korea
関連論文
- Suprasellar chordoid glioma combined with Rathke's cleft cyst
- A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
- Non-A type nucleophosmin 1 gene mutation predicts poor clinical outcome in de novo adult acute myeloid leukemia : differential clinical importance of NPM1 mutation according to subtype
- Extramedullary Relapse Confirmed by Fluorescence In Situ Hybridization Study of an Ear Mass in Acute Promyelocytic Leukemia
- T cell expression of CIITA represses Th1 immunity
- Prevalence of hepatitis B and C virus infection among adults in Korea
- Multiple Brain Calcification in Chronic Lead Poisoning
- The Effectiveness of Modified Ingram Therapy Compared with Severity of Psoriasis
- A Case of Acral Melanocytic Hyperplasia : A Unique Pigmented Lesion Mimicking Acral Lentiginous Melanoma In situ
- Novel interleukin 1β polymorphism increased the risk of gastric cancer in a Korean population
- Dysembryoplastic neuroepithelial tumors in pediatric patients
- White-Matter Change in Mesial Temporal Sclerosis : Correlation of MRI with PET, Pathology, and Clinical Features
- Spinal nerve sheath myxoma (neurothekeoma)
- 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
- Craniofacial Dysmorphia of Frontal Proboscis in Holoprosencephaly
- Cutaneous bronchogenic cyst of the abdominal wall
- Peritoneal melanosis combined with serous cystadenoma of the ovary: A case report and literature review
- Oncocytic adrenocortical carcinomas : A pathological and immunohistochemical study of four cases in comparison with conventional adrenocortical carcinomas
- Cerebral granular cell tumor
- A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome
- Comparative Study of Null Lens for Hyperbolic Surface Test
- Characteristics of Plasma-Sprayed Coatings Using Fine Al_2O_3Powder
- Adult teratoid Wilms' tumor with prominent neuroepithelial differentiation
- Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2
- Fatigue Life and Crack Growth Mechanisms of the Type 316LN Austenitic Stainless Steel in 310℃ Deoxygenated Water
- Characteristics of HVOF-Sprayed WC-Co Cermet Coatings Affected by WC Particle Size and Fuel/Oxygen Ratio
- Mycobacterium massiliense is differentiated from Mycobacterium abscessus and Mycobacterium bolletii by erythromycin ribosome methyltransferase gene (erm) and clarithromycin susceptibility patterns
- A Study on Tire-Structure-Borne Sound
- Characteristics of Spray-Dried WC-17 mass% Co Composite Powder Part 1: Effect of Heating
- The Effect of Oxygen Flow Rate in HVOF Spraying on Oxidation Behavior of Cr_3C_2 (7 mass%NiCr) Coatings
- Characteristics of HVOF-Sprayed Cr_3C_2 (20 mass%NiCr) Coatings Part 2: Effect of Heat Treatment of the Coatings
- Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome
- Pituicytoma with unusual histological features
- 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
- Alcohol-Responsive Writer's Cramp
- Binding Evaluation of Targeted Microbubbles with Biotin–Avidin Interaction by Surface Plasmon Resonance Biosensor
- Positive Correlation Between the Dysregulation of Transforming Growth Factor-β1 and Aneurysmal Pathological Changes in Patients With Marfan Syndrome
- Sound Radiation due to Tire Tread Vibration
- Sensitivity Determination of a Quartz Crystal Resonator for Practical Materials
- Positive Correlation Between the Dysregulation of Transforming Growth Factor-β_1 and Aneurysmal Pathological Changes in Patients With Marfan Syndrome
- 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