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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina.
Afiliação
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.
  • Dordoni C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.
  • Cinquina V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.
  • Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
  • Calzavara-Pinton P; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. marina.colombi@unibs.it.
Orphanet J Rare Dis ; 12(1): 153, 2017 09 07.
Article em En | MEDLINE | ID: mdl-28882145
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Galactosiltransferases Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Galactosiltransferases Idioma: En Ano de publicação: 2017 Tipo de documento: Article