Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long, Wei; Lu, Guanting; Zhou, Wenbai; Yang, Yuqi; Zhang, Bin; Zhou, Hong; Jiang, Lihua; Yu, Bin

Long, Wei; Lu, Guanting; Zhou, Wenbai; Yang, Yuqi; Zhang, Bin; Zhou, Hong; Jiang, Lihua; Yu, Bin.

Afiliación

Long W; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Lu G; Department of Blood Transfusion, Fourth Military Medical University, Xi'an City, 710032, Shanxi Province, China.
Zhou W; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Yang Y; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Zhang B; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Zhou H; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Jiang L; Department of Child Health, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.
Yu B; Department of Newborn Screening, Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou City, 213003, Jiangsu Province, China.

Endocr J ; 65(10): 1019-1028, 2018 Oct 29.

Article en En | MEDLINE | ID: mdl-30022773

Asunto(s)

Hipotiroidismo Congénito/genética; Mutación; Adenosina Trifosfatasas/genética; Pueblo Asiatico/genética; Autoantígenos/genética; China; Cromograninas/genética; Proteínas de Unión al ADN/genética; Oxidasas Duales/genética; Subunidades alfa de la Proteína de Unión al GTP Gs/genética; Secuenciación de Nucleótidos de Alto Rendimiento; Proteína Homeótica Nkx-2.5/genética; Humanos; Yoduro Peroxidasa/genética; Proteínas de Unión a Hierro/genética; Proteínas de Microfilamentos/genética; Proteínas Musculares/genética; Factor de Transcripción PAX8/genética; Fenotipo; Receptores de Tirotropina/genética; Factores de Transcripción/genética

Palabras clave

Congenital hypothyroidism; Gene mutation; Next-generation sequencing; Thyroglobulin; Thyroid oxidase 2

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Hipotiroidismo Congénito / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Endocr J Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: China

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