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Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian, Meena; Fratzl-Zelman, Nadja; O'Sullivan, Rory; Bull, Mary; Fa Peel, Nicola; Pollitt, Rebecca C; Jones, Rebecca; Milne, Elizabeth; Smith, Kath; Roschger, Paul; Klaushofer, Klaus; Bishop, Nicholas J.
Afiliación
  • Balasubramanian M; Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK.
  • Fratzl-Zelman N; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
  • O'Sullivan R; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria.
  • Bull M; Medical School, University of Sheffield, UK.
  • Fa Peel N; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.
  • Pollitt RC; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.
  • Jones R; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
  • Milne E; Department of Psychology, Sheffield Children's NHS Foundation Trust, UK.
  • Smith K; Department of Psychology, University of Sheffield, UK.
  • Roschger P; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
  • Klaushofer K; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria.
  • Bishop NJ; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria.
Am J Med Genet A ; 176(7): 1578-1586, 2018 07.
Article en En | MEDLINE | ID: mdl-29736964

Texto completo: 1 Colección: 01-internacional Asunto principal: Osteoporosis / Calcificación Fisiológica / Glicoproteínas de Membrana / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Asunto principal: Osteoporosis / Calcificación Fisiológica / Glicoproteínas de Membrana / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microfilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido