Search for Novel Mutational Targets in Human Endocrine Diseases
Endocrinology and Metabolism
;
: 23-28, 2019.
Article
in English
| WPRIM
| ID: wpr-739223
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Variation
/
Genetic Testing
/
Genomics
/
Diagnosis
/
Endocrine System Diseases
/
Endocrinology
/
High-Throughput Nucleotide Sequencing
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Endocrinology and Metabolism
Year:
2019
Type:
Article
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