Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.

Liu, Dongling; Hu, Xijiang; Jiang, Xiwen; Gao, Bo; Wan, Cheng; Chen, Changying

Liu, Dongling; Hu, Xijiang; Jiang, Xiwen; Gao, Bo; Wan, Cheng; Chen, Changying.

Afiliação

Liu D; School of Nursing, Zhengzhou University, Zhengzhou, Henan, 450052, China.
Hu X; Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430016, China.
Jiang X; DaAn Gene Co., Ltd. Of Sun Yat-sen University, The Medicine and Biological Engineering Technology Research Center of the Ministry of Health, Guangzhou, Guangdong, China.
Gao B; Department of Laboratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.
Wan C; Department of Biomedical Engineering, College of Engineering, Peking University, Beijing, 100871, China. cwan@pku.edu.cn.
Chen C; School of Nursing, Zhengzhou University, Zhengzhou, Henan, 450052, China. changying0000@126.com.

BMC Med Genet ; 18(1): 135, 2017 11 21.

Article em En | MEDLINE | ID: mdl-29157204

Assuntos

Linfo-Histiocitose Hemofagocítica/genética; Proteínas de Membrana/genética; Mutação; Splicing de RNA; Adolescente; Feminino; Testes Genéticos; Humanos; Linfo-Histiocitose Hemofagocítica/patologia; Análise de Sequência de DNA/métodos

Palavras-chave

Amplicon sequencing; Genetic analysis; HLH; Splicing mutation; UNC13D

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Linfo-Histiocitose Hemofagocítica / Proteínas de Membrana / Mutação Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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