Associated Papers
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.
Seefried L et al.
Molecular Biology Reports, 2024
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.
Huang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
Select a paper to view details