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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 영남대학교 의과대학 Journal of Yeungnam Medical Science Yeungnam University Journal of Medicine 제37권 제1호
- 발행연도
- 2020.1
- 수록면
- 13 - 21 (9page)
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초록· 키워드
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Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.
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참고문헌 (73)
참고문헌 신청
Yang Y / 2016 / Monogenic diabetes : what it teaches us on the common forms of type 1 and type 2 diabetes / Endocr Rev 37:190~222
Steck AK / 2011 / Review on monogenic diabetes / Curr Opin Endocrinol Diabetes Obes 18:252~258
Tattersall RB / 1974 / Mild familial diabetes with dominant inheritance / Q J Med 43:339~357
Ellard S / 2008 / Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young / Diabetologia 51:546~553
Froguel P / 1992 / Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus / Nature 356:162~164
Steck AK / 2011 / Review on monogenic diabetes / Curr Opin Endocrinol Diabetes Obes 18:252~258
Tattersall RB / 1974 / Mild familial diabetes with dominant inheritance / Q J Med 43:339~357
Ellard S / 2008 / Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young / Diabetologia 51:546~553
Froguel P / 1992 / Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus / Nature 356:162~164
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