Search for Novel Mutational Targets in Human Endocrine Diseases
Endocrinology and Metabolism
;
: 23-28, 2019.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Variação Genética
/
Testes Genéticos
/
Genômica
/
Diagnóstico
/
Doenças do Sistema Endócrino
/
Endocrinologia
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Endocrinology and Metabolism
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS