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Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.
Pelosini, Caterina; Martinelli, Silvia; Ceccarini, Giovanni; Magno, Silvia; Barone, Ilaria; Basolo, Alessio; Fierabracci, Paola; Vitti, Paolo; Maffei, Margherita; Santini, Ferruccio.
Afiliação
  • Pelosini C; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Martinelli S; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Ceccarini G; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Magno S; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Barone I; Dulbecco Telethon Institute, Rome, Italy.
  • Basolo A; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Fierabracci P; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Vitti P; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy.
  • Maffei M; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy; CNR, Institute of Clinical Physiology, Pisa, Italy.
  • Santini F; Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy. Electronic address: ferruccio.santini@med.unipi.it.
Metabolism ; 63(11): 1385-9, 2014 Nov.
Article em En | MEDLINE | ID: mdl-25131834
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / DNA Polimerase III / Lipodistrofia / Mandíbula / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / DNA Polimerase III / Lipodistrofia / Mandíbula / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article