A rare form of Gaucher disease resulting from saposin C deficiency.

Kang, Lulu; Zhan, Xia; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Gu, Xuefan; Zhang, Huiwen

Kang, Lulu; Zhan, Xia; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Gu, Xuefan; Zhang, Huiwen.

Afiliação

Kang L; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Zhan X; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Ye J; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Han L; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Qiu W; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Gu X; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China.
Zhang H; Pediatric Endocrinology and Genetic, Xin Hua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, China. Electronic address: huiwenzhang@yahoo.com.

Blood Cells Mol Dis ; 68: 60-65, 2018 02.

Article em En | MEDLINE | ID: mdl-28457694

Assuntos

Doença de Gaucher/etiologia; Doença de Gaucher/genética; Mutação Puntual; Saposinas/deficiência; Sequência de Bases; Criança; Éxons; Deleção de Genes; Humanos; Masculino; Mutação de Sentido Incorreto; Saposinas/genética; Deleção de Sequência

Palavras-chave

Gaucher disease; Prosapsin; Saposin C

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação Puntual / Saposinas / Doença de Gaucher Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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