A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.

Fu, J; Lai, F; Chen, Y; Wan, X; Wei, G; Li, Y; Xiao, H; Cao, X

Fu, J; Lai, F; Chen, Y; Wan, X; Wei, G; Li, Y; Xiao, H; Cao, X.

Afiliação

Fu J; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Lai F; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Chen Y; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Wan X; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Wei G; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Li Y; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Xiao H; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
Cao X; Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China. caoxp@mail.sysu.edu.cn.

J Endocrinol Invest ; 41(8): 909-917, 2018 Aug.

Article em En | MEDLINE | ID: mdl-29318463

Assuntos

Biomarcadores/análise; Complexo de Carney/genética; Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética; Mutação; Splicing de RNA; Adolescente; Adulto; Idoso; Estudos de Casos e Controles; Criança; Pré-Escolar; Feminino; Seguimentos; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem; Fenótipo; Prognóstico; Adulto Jovem

Palavras-chave

Carney complex; PRKAR1A gene mutation; Pedigree; Primary pigmented nodular adrenocortical disease; Splice site mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biomarcadores / Splicing de RNA / Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico / Complexo de Carney / Mutação Tipo de estudo: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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