Associated Papers
Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.
Zaripova AR et al.
Clinical Genetics, 2026
Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data.
Shiraishi Y et al.
Nature Communications, 2022
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L et al.
Genes, 2022
35327962 (PubMed )
Supplement: genes-13-00407-s001.zip › genes-1583282-supplementary.pdf
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC et al.
Cell and Tissue Research, 2010
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D et al.
Human Mutation, 2008
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Cabral WA et al.
Nature Genetics, 2007
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