Search for Novel Mutational Targets in Human Endocrine Diseases

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...

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Published inEndocrinology and metabolism (Seoul) Vol. 34; no. 1; pp. 23 - 28
Main Authors So Young Park, Myeong Han Seo, Sihoon Lee
Format Journal Article
LanguageKorean
Published 대한내분비학회 31.03.2019
Subjects
Endocrinology
Genes
Genomics
High-throughput nucleotide sequencing
Mutation
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Summary: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.
Bibliography:The Korean Society of Endocrinology
ISSN:2093-596X