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Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.
Usta, Akin; Karademir, Dilay; Sen, Eylem; Yazici, Selcuk; Adali, Ertan; Erdem, Erkan; Karacan, Meric.
  • Usta A; Department of Obstetrics and Gynecology, School of Medicine, Balikesir University, Balikesir,Turkey.
  • Karademir D; Department of Obstetrics and Gynecology, School of Medicine, Balikesir University, Balikesir,Turkey.
  • Sen E; Department of Pediatrics, Balikesir Ataturk State Hospital, Balikesir,Turkey.
  • Yazici S; Department of Pediatrics, School of Medicine, Balikesir University, Balikesir,Turkey.
  • Adali E; Department of Obstetrics and Gynecology, School of Medicine, Balikesir University, Balikesir,Turkey.
  • Erdem E; Department of Reproductive Endocrinology and Infertility, Ota-Jinemed Hospital, Istanbul, Turkey.
  • Karacan M; Department of Reproductive Endocrinology and Infertility, Ota-Jinemed Hospital, Istanbul, Turkey.
Pan Afr Med J ; 27: 198, 2017.
Article en En | MEDLINE | ID: mdl-28904723
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Difosfonatos / Fémur Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Newborn / Pregnancy Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I / Difosfonatos / Fémur Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Newborn / Pregnancy Idioma: En Año: 2017 Tipo del documento: Article