Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.
Demir K et al.
Odontology, 2025
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY et al.
Calcified Tissue International, 2017
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
Bardai G et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
Al-Jallad H et al.
Bone, 2015
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo RM et al.
Molecular Syndromology, 2014
Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
Al-Jallad H et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
Homan EP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
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