Browsing by Subject "Plastin 3"

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    • PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants 

      Kämpe AJ; Costantini A; Mäkitie RE; Jäntti N; Valta H; Mäyränpää M; Kröger H; Pekkinen M; Taylan F; Jiao H; Mäkitie O (Springer Nature, 2017)
      Summary Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel ...
      info:eu-repo/semantics/article