Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.

Seo, Soo Hyun; Kim, Jung Hee; Kim, Man Jin; Cho, Sung Im; Kim, Su Jin; Kang, Hyein; Shin, Chan Soo; Park, Sung Sup; Lee, Kyu Eun; Seong, Moon-Woo

Seo, Soo Hyun; Kim, Jung Hee; Kim, Man Jin; Cho, Sung Im; Kim, Su Jin; Kang, Hyein; Shin, Chan Soo; Park, Sung Sup; Lee, Kyu Eun; Seong, Moon-Woo.

Afiliação

Seo SH; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Kim JH; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Kim MJ; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Kim SJ; Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Kang H; Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Shin CS; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Lee KE; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Seong MW; Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Endocrinol Metab (Seoul) ; 35(4): 909-917, 2020 12.

Article em En | MEDLINE | ID: mdl-33397043

Assuntos

Neoplasias das Glândulas Suprarrenais/genética; Sequenciamento do Exoma/métodos; Mutação em Linhagem Germinativa/genética; Paraganglioma/genética; Feocromocitoma/genética; Adolescente; Adulto; Idoso; Idoso de 80 Anos ou mais; Criança; Estudos de Coortes; Complexo II de Transporte de Elétrons/genética; Feminino; Predisposição Genética para Doença; Testes Genéticos/instrumentação; Neoplasias de Cabeça e Pescoço/genética; Humanos; Cinesinas/genética; Masculino; Pessoa de Meia-Idade; República da Coreia; Neoplasias da Bexiga Urinária/genética; Adulto Jovem

Palavras-chave

Germ-line mutation; Molecular diagnostic techniques; Paraganglioma; Pheochromocytoma; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraganglioma / Feocromocitoma / Neoplasias das Glândulas Suprarrenais / Mutação em Linhagem Germinativa / Sequenciamento do Exoma Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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