A paternally inherited non-sense variant c.424G>T (p.G142*) in the first exon of XL&#945;s in an adult patient with hypophosphatemia and osteopetrosis.

Chen, Xiang; Meng, Yang; Tang, Mengjia; Wang, Yan; Xie, Ying; Wan, Shan; Tian, Haoming; Yu, Xijie

A paternally inherited non-sense variant c.424G>T (p.G142*) in the first exon of XLαs in an adult patient with hypophosphatemia and osteopetrosis.

Chen, Xiang; Meng, Yang; Tang, Mengjia; Wang, Yan; Xie, Ying; Wan, Shan; Tian, Haoming; Yu, Xijie.

Afiliación

Chen X; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Meng Y; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Tang M; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Wang Y; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Xie Y; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Wan S; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
Tian H; Department of Endocrinology, West China Hospital, Sichuan University, Chengdu, China.
Yu X; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.

Clin Genet ; 97(5): 712-722, 2020 05.

Article en En | MEDLINE | ID: mdl-32157680

Asunto(s)

Subunidades alfa de la Proteína de Unión al GTP Gs/genética; Predisposición Genética a la Enfermedad; Hipofosfatemia Familiar/genética; Osteopetrosis/genética; Adulto; Línea Celular; Codón sin Sentido/genética; Exones/genética; Humanos; Hipofosfatemia Familiar/patología; Masculino; Osteopetrosis/patología; Hormona Paratiroidea/farmacología; Herencia Paterna/genética; Seudohipoparatiroidismo/genética; Seudohipoparatiroidismo/patología

Palabras clave

XLαs; hypophosphatemia; osteopetrosis; parathyroid hormone; pseudohypoparathyroidism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteopetrosis / Subunidades alfa de la Proteína de Unión al GTP Gs / Predisposición Genética a la Enfermedad / Hipofosfatemia Familiar Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Dinamarca

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