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A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.
Weng, Chen; Chen, Jiao; Sun, Li; Zhou, Zhong-Wei; Feng, Xue; Sun, Jun-Hui; Lu, Ling-Ping; Yu, Ping; Qi, Ming.
Afiliação
  • Weng C; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Chen J; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Sun L; Department of Nephrology and Rheumatology, Children's Hospital of Fudan University, Shanghai, China.
  • Zhou ZW; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Feng X; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Sun JH; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Lu LP; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Yu P; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
  • Qi M; Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, Hangzhou, China.
J Hum Genet ; 61(3): 223-7, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26559751
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endopeptidase Neutra Reguladora de Fosfato PHEX / Raquitismo Hipofosfatêmico / Mosaicismo / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endopeptidase Neutra Reguladora de Fosfato PHEX / Raquitismo Hipofosfatêmico / Mosaicismo / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article