Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

Song, Yinsen; Dong, Zhengping; Luo, Shuying; Yang, Junmei; Lu, Yuebing; Gao, Bo; Fan, Tianli

Song, Yinsen; Dong, Zhengping; Luo, Shuying; Yang, Junmei; Lu, Yuebing; Gao, Bo; Fan, Tianli.

Afiliação

Song Y; Central Laboratory, Zhengzhou People's Hospital Affiliated to Southern Medical University, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Dong Z; Binzhou medical University, Yantai, China.
Luo S; Department of Oncology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Yang J; Central Laboratory, Zhengzhou People's Hospital Affiliated to Southern Medical University, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Lu Y; Department of Oncology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Gao B; Department of Laboratory Medicine, Taihe Hopsital, Hubei University of Medicine, Shiyan, China. fromzero1121@hotmail.com.
Fan T; School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China. tlfan2012@163.com.

BMC Med Genet ; 21(1): 4, 2020 01 06.

Article em En | MEDLINE | ID: mdl-31906877

Assuntos

Sequência de Aminoácidos/genética; Síndrome de Chediak-Higashi/genética; Proteínas de Transporte Vesicular/genética; Síndrome de Chediak-Higashi/patologia; Criança; Pré-Escolar; Feminino; Heterozigoto; Humanos; Lisossomos/genética; Mutação de Sentido Incorreto; Linhagem

Palavras-chave

Amplicon sequencing; Chediak-Higashi syndrome; Compound heterozygote; LYST gene; Two-generation pedigree

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Chediak-Higashi / Sequência de Aminoácidos / Proteínas de Transporte Vesicular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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