Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing.

Wang, Shu-Fang; Zhou, Ting; Du, Meng-Ru; Sheng, Jiang

Wang, Shu-Fang; Zhou, Ting; Du, Meng-Ru; Sheng, Jiang.

Afiliación

Wang SF; Department of Endocrinology, Caoxian People's Hospital of Heze, 274400, China.
Zhou T; State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, China.
Du MR; State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, China.
Sheng J; State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, China. Electronic address: jiangshengdr_88@163.com.

Asian J Surg ; 45(5): 1160-1161, 2022 05.

Article en En | MEDLINE | ID: mdl-35279323

Asunto(s)

25-Hidroxivitamina D3 1-alfa-Hidroxilasa; Raquitismo; 25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética; Humanos; Mutación; Raquitismo/genética; Vitamina D; Secuenciación del Exoma

Palabras clave

CYP27B1 gene; Gene mutation; VDDR IA

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Raquitismo / 25-Hidroxivitamina D3 1-alfa-Hidroxilasa Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Asian J Surg Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos

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