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Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.
Lindahl, Katarina; Åström, Eva; Dragomir, Anca; Symoens, Sofie; Coucke, Paul; Larsson, Sune; Paschalis, Eleftherios; Roschger, Paul; Gamsjaeger, Sonja; Klaushofer, Klaus; Fratzl-Zelman, Nadja; Kindmark, Andreas.
Afiliación
  • Lindahl K; Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden. Electronic address: Katarina.lindahl@medsci.uu.se.
  • Åström E; Department of Woman and Child Health, Karolinska Institutet and Pediatric Neurology, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.
  • Dragomir A; Dept. of Surgical Pathology, Uppsala University Hospital, Uppsala, Sweden.
  • Symoens S; Dept. of Medical Genetics, The University Hospital in Ghent, Ghent, Belgium.
  • Coucke P; Dept. of Medical Genetics, The University Hospital in Ghent, Ghent, Belgium.
  • Larsson S; Dept. of Surgical Sciences, Uppsala University Hospital, Uppsala, Sweden.
  • Paschalis E; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
  • Roschger P; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
  • Gamsjaeger S; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
  • Klaushofer K; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
  • Fratzl-Zelman N; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.
  • Kindmark A; Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden.
Bone ; 114: 268-277, 2018 09.
Article en En | MEDLINE | ID: mdl-29936144
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Proteína de Unión a Elemento de Respuesta al AMP Cíclico / Sobrevivientes / Codón sin Sentido / Homocigoto / Proteínas del Tejido Nervioso Tipo de estudio: Qualitative_research / Risk_factors_studies Límite: Adult / Child / Humans / Male Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Proteína de Unión a Elemento de Respuesta al AMP Cíclico / Sobrevivientes / Codón sin Sentido / Homocigoto / Proteínas del Tejido Nervioso Tipo de estudio: Qualitative_research / Risk_factors_studies Límite: Adult / Child / Humans / Male Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2018 Tipo del documento: Article