A novel STK11 missense mutation (c.346Gâ¯>â¯T) causing Peutz-Jeghers syndrome in a Chinese male with a negative family history.

Zhao, Zi-Ye; Jiang, Yu-Liang; Li, Bai-Rong; Yu, En-Da; Ning, Shou-Bin

A novel STK11 missense mutation (c.346Gâ¯>â¯T) causing Peutz-Jeghers syndrome in a Chinese male with a negative family history.

Zhao, Zi-Ye; Jiang, Yu-Liang; Li, Bai-Rong; Yu, En-Da; Ning, Shou-Bin.

Afiliação

Zhao ZY; Department of Colorectal Surgery, Shanghai Changhai Hospital, Shanghai, China.
Jiang YL; Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China.
Li BR; Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China.
Yu ED; Department of Colorectal Surgery, Shanghai Changhai Hospital, Shanghai, China. Electronic address: endayu@yeah.net.
Ning SB; Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China. Electronic address: ningshoubin@126.com.

Dig Liver Dis ; 50(8): 864-866, 2018 08.

Article em En | MEDLINE | ID: mdl-29921539

Assuntos

Pólipos Intestinais/patologia; Mutação de Sentido Incorreto; Síndrome de Peutz-Jeghers/diagnóstico; Síndrome de Peutz-Jeghers/genética; Proteínas Serina-Treonina Quinases/genética; Quinases Proteína-Quinases Ativadas por AMP; Adulto; China; Hemorragia Gastrointestinal/etiologia; Mutação em Linhagem Germinativa; Humanos; Pólipos Intestinais/cirurgia; Masculino; Síndrome de Peutz-Jeghers/patologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Peutz-Jeghers / Pólipos Intestinais / Proteínas Serina-Treonina Quinases / Mutação de Sentido Incorreto Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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