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Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Augusciak-Duma, Aleksandra; Witecka, Joanna; Sieron, Aleksander L; Janeczko, Magdalena; Pietrzyk, Jacek J; Ochman, Karolina; Galicka, Anna; Borszewska-Kornacka, Maria K; Pilch, Jacek; Jakubowska-Pietkiewicz, Elzbieta.
Afiliação
  • Augusciak-Duma A; Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
  • Witecka J; Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
  • Sieron AL; Department of Molecular Biology and Genetics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
  • Janeczko M; Jagiellonian University, Collegium Medicum, Chair of Pediatrics, Department of Medical Genetics, Polish-American Children's Hospital, Krakow, Poland.
  • Pietrzyk JJ; Jagiellonian University, Collegium Medicum, Chair of Pediatrics, Department of Medical Genetics, Polish-American Children's Hospital, Krakow, Poland.
  • Ochman K; Clinics and Medical Laboratories INVICTA, Genetics Clinic, Gdansk, Poland.
  • Galicka A; Department of Medical Chemistry, Medical University of Bialystok, Poland.
  • Borszewska-Kornacka MK; Neonatal and Intensive Care Department Medical University of Warsaw, Warsaw, Poland.
  • Pilch J; Department of Child Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
  • Jakubowska-Pietkiewicz E; Department of Pediatric Propedeutics and Bone Metabolism Diseases, Medical University in Lodz, Poland.
Acta Biochim Pol ; 65(1): 79-86, 2018.
Article em En | MEDLINE | ID: mdl-29543922
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Colágeno Tipo I / Mutação Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Acta Biochim Pol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Colágeno Tipo I / Mutação Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Acta Biochim Pol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia