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A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Alesi, Viola; Sessini, Francesca; Genovese, Silvia; Calvieri, Giusy; Sallicandro, Ester; Ciocca, Laura; Mingoia, Maura; Novelli, Antonio; Moi, Paolo.
Afiliação
  • Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Sessini F; Pediatric Clinic and Rare Diseases, Brotzu Hospital, 09134 Cagliari, Italy.
  • Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Calvieri G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Sallicandro E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Ciocca L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Mingoia M; Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Moi P; Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Int J Mol Sci ; 22(4)2021 Feb 20.
Article em En | MEDLINE | ID: mdl-33672664
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Doenças Retinianas / Variação Genética / Metaloendopeptidases / Íntrons / Oftalmoplegia Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Doenças Retinianas / Variação Genética / Metaloendopeptidases / Íntrons / Oftalmoplegia Idioma: En Ano de publicação: 2021 Tipo de documento: Article