Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.

Zhang, Q; Mo, Z H; Dong, C S; Yang, F; Xie, Y H; Jin, P

Zhang, Q; Mo, Z H; Dong, C S; Yang, F; Xie, Y H; Jin, P.

Afiliação

Zhang Q; Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
Mo ZH; Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
Dong CS; Department of Anesthesia, The Affiliated Tumor Hospital of Xiangya Medical School of Central South University, Changsha, 410007, Hunan Province, People's Republic of China.
Yang F; Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
Xie YH; Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
Jin P; Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China. jping7676@hotmail.com.

J Endocrinol Invest ; 39(6): 679-85, 2016 Jun.

Article em En | MEDLINE | ID: mdl-26694706

Assuntos

Proteínas de Membrana/genética; Mutação/genética; Proteínas Nucleares/genética; Osteopecilose/genética; Polimorfismo Genético/genética; Adulto; Estudos de Casos e Controles; Proteínas de Ligação a DNA; Éxons/genética; Feminino; Heterozigoto; Humanos; Masculino; Linhagem; Reação em Cadeia da Polimerase

Palavras-chave

LEMD3 gene; Mutation; Osteoblastic metastasis; Osteopoikilosis

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Texto completo: 1 Base de dados: MEDLINE Métodos Terapêuticos e Terapias MTCI: Terapias_manuales Assunto principal: Osteopecilose / Polimorfismo Genético / Proteínas Nucleares / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2016 Tipo de documento: Article

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