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- Title
Search for Novel Mutational Targets in Human Endocrine Diseases.
- Authors
So Young Park; Myeong Han Seo; Sihoon Lee
- Abstract
The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.
- Subjects
ENDOCRINE diseases; SCIENTIFIC knowledge; GENETIC testing; GENETIC disorders; GENETICS
- Publication
Endocrinology & Metabolism, 2019, Vol 34, Issue 1, p23
- ISSN
2093-596X
- Publication type
Article
- DOI
10.3803/EnM.2019.34.1.23