A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Pang, Minghui; Liu, Yijun; Hou, Xiaolin; Yang, Jialiang; He, Xuelai; Hou, Nengyi; Liu, Peixi; Liang, Luo; Fu, Junwen; Wang, Kang; Ye, Zimeng; Gong, Bo

Pang, Minghui; Liu, Yijun; Hou, Xiaolin; Yang, Jialiang; He, Xuelai; Hou, Nengyi; Liu, Peixi; Liang, Luo; Fu, Junwen; Wang, Kang; Ye, Zimeng; Gong, Bo.

Afiliação

Pang M; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Liu Y; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Department of Clinical Laboratory Medicine, Sun YatSen University Cancer Center, Guangzhou, Guangdong 510000, P.R. China.
Hou X; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Yang J; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
He X; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Hou N; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Liu P; Department of Gastroenterology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Liang L; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Fu J; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Wang K; Department of Gastrointestinal Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Ye Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Gong B; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Mol Med Rep ; 18(2): 1423-1432, 2018 Aug.

Article em En | MEDLINE | ID: mdl-29901124

Assuntos

Proteína da Polipose Adenomatosa do Colo/genética; Polipose Adenomatosa do Colo/genética; Mutação da Fase de Leitura; Predisposição Genética para Doença; Esteatocistoma Múltiplo/genética; Polipose Adenomatosa do Colo/etnologia; Polipose Adenomatosa do Colo/patologia; Proteína da Polipose Adenomatosa do Colo/química; Adolescente; Adulto; Idoso; Povo Asiático; Sequência de Bases; Estudos de Casos e Controles; Éxons; Feminino; Expressão Gênica; Estudos de Associação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Pessoa de Meia-Idade; Modelos Moleculares; Linhagem; Estrutura Secundária de Proteína; Esteatocistoma Múltiplo/etnologia; Esteatocistoma Múltiplo/patologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Polipose Adenomatosa do Colo / Predisposição Genética para Doença / Proteína da Polipose Adenomatosa do Colo / Esteatocistoma Múltiplo Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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