지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 341 - 344 (4page)
이용수
초록· 키워드
오류제보하기
등록된 정보가 없습니다.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Graziano C / 2009 / Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation / Blood 114:1655~1657
Zhang B / 2011 / A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia / Blood 118:6988~6990
Schlemper RJ / 1994 / Familial essential thrombocythemia : clinical characteristics of 11 cases in one family / Ann Hematol 68:153~158
Wiestner A / 1998 / An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia / Nat Genet 18:49~52
Kondo T / 1998 / Familial essential thrombocythemia associated with one-base deletion in the 5’-untranslated region of the thrombopoietin gene / Blood 92:1091~1096
Zhang B / 2011 / A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia / Blood 118:6988~6990
Schlemper RJ / 1994 / Familial essential thrombocythemia : clinical characteristics of 11 cases in one family / Ann Hematol 68:153~158
Wiestner A / 1998 / An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia / Nat Genet 18:49~52
Kondo T / 1998 / Familial essential thrombocythemia associated with one-base deletion in the 5’-untranslated region of the thrombopoietin gene / Blood 92:1091~1096
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience
Childhood Kidney Diseases
2022 .06
-
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Annals of Laboratory Medicine
2015 .01
-
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn’s Disease?
Gut and Liver
2015 .01
-
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Annals of Laboratory Medicine
2019 .01
-
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Journal Of Movement Disorders
2022 .05
-
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
PSYCHIATRY INVESTIGATION
2016 .01
-
Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)
Journal of Laboratory Medicine And Quality Assurance
2021 .01
-
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Pediatric Gastroenterology, Hepatology & Nutrition
2019 .01
-
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Annals of Laboratory Medicine
2015 .01
-
A priori and null in autism genetics : Lesson from 7,600 whole genome and 35,000 exome sequencing gata
대한소아청소년정신의학회 학술대회논문집
2018 .11
-
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
Yonsei Medical Journal
2024 .01
-
Exome sequencing in a breast cancer family without BRCA mutation
Radiation oncology journal : ROJ
2015 .01
-
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing
Clinical Psychopharmacology and Neuroscience
2021 .11
-
Recent Advances in the Clinical Application of Next-Generation Sequencing
Pediatric Gastroenterology, Hepatology & Nutrition
2021 .01
-
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of genetic medicine
2018 .01
-
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
Annals of Laboratory Medicine
2017 .01
-
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Clinical and Experimental Pediatrics
2018 .01
-
Corrigendum: Correction of Table. Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
Endocrinology and Metabolism
2021 .01
-
Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma
Annals of Laboratory Medicine
2021 .01
-
Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report
Annals of Laboratory Medicine
2022 .03
이 논문의 저자 정보
최근 본 자료
댓글(0)
0