GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan, Bin; Welch, James M; Sapp, Julie C; Ling, Hua; Li, Yulong; Johnston, Jennifer J; Kebebew, Electron; Biesecker, Leslie G; Simonds, William F; Marx, Stephen J; Agarwal, Sunita K

Guan, Bin; Welch, James M; Sapp, Julie C; Ling, Hua; Li, Yulong; Johnston, Jennifer J; Kebebew, Electron; Biesecker, Leslie G; Simonds, William F; Marx, Stephen J; Agarwal, Sunita K.

Afiliación

Guan B; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Electronic address: bin.guan@nih.gov.
Welch JM; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
Sapp JC; The National Human Genome Research Institute, Bethesda, MD 20892, USA.
Ling H; The Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MD 21224, USA.
Li Y; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
Johnston JJ; The National Human Genome Research Institute, Bethesda, MD 20892, USA.
Kebebew E; The National Cancer Institute, Bethesda, MD 20892, USA.
Biesecker LG; The National Human Genome Research Institute, Bethesda, MD 20892, USA.
Simonds WF; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
Marx SJ; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
Agarwal SK; The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Electronic address: sunitaa@mail.nih.gov.

Am J Hum Genet ; 99(5): 1034-1044, 2016 Nov 03.

Article en En | MEDLINE | ID: mdl-27745835

Asunto(s)

Adenoma/genética; Fibroma/genética; Mutación de Línea Germinal; Hiperparatiroidismo Primario/genética; Hiperparatiroidismo/genética; Neoplasias Maxilomandibulares/genética; Neoplasia Endocrina Múltiple Tipo 1/genética; Proteínas Nucleares/genética; Factores de Transcripción/genética; Adenoma/diagnóstico; Adolescente; Adulto; Anciano; Secuencia de Aminoácidos; Exoma; Femenino; Fibroma/diagnóstico; Variación Genética; Humanos; Hiperparatiroidismo/diagnóstico; Hiperparatiroidismo Primario/diagnóstico; Neoplasias Maxilomandibulares/diagnóstico; Masculino; Persona de Mediana Edad; Neoplasia Endocrina Múltiple Tipo 1/diagnóstico; Hormona Paratiroidea; Linaje; Proto-Oncogenes Mas; Proto-Oncogenes/genética; Análisis de Secuencia de ADN; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas Nucleares / Neoplasias Maxilomandibulares / Adenoma / Mutación de Línea Germinal / Neoplasia Endocrina Múltiple Tipo 1 / Hiperparatiroidismo Primario / Fibroma / Hiperparatiroidismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article

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