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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo, Renata Moldenhauer; Sobreira, Nara; de Faria Soares, Maria de Fatima; Jurgens, Julie; Ling, Hua; Hetrick, Kurt N; Doheny, Kimberly F; Valle, David; Brunoni, Decio; Perez, Ana B Alvarez.
  • Minillo RM; Center of Medical Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Sobreira N; McKusick-Nathan Institute of Genetic Medicine, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • de Faria Soares Mde F; Center of Medical Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Jurgens J; McKusick-Nathan Institute of Genetic Medicine, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • Ling H; Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • Hetrick KN; Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • Doheny KF; Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • Valle D; McKusick-Nathan Institute of Genetic Medicine, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Md., USA.
  • Brunoni D; Center of Medical Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Perez AB; Center of Medical Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Mol Syndromol ; 5(6): 268-75, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25565926
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Etiology_studies País como asunto: America do sul / Brasil Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Etiology_studies País como asunto: America do sul / Brasil Idioma: En Año: 2014 Tipo del documento: Article