A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

One of the most important steps in post-translational modifications of collagen type I chains is the hydroxylation of carbon-3 of proline residues by prolyl-3-hydroxylase-1 (P3H1). Genetic variants in P3H1 have been reported to cause autosomal recessive osteogenesis imperfecta (OI) type VIII. Clinic...

Descripción completa

Detalles Bibliográficos
Autores principales: Kantaputra, Piranit Nik, Angkurawaranon, Salita, Intachai, Worrachet, Ngamphiw, Chumpol, Olsen, Bjorn, Tongsima, Sissades, Cox, Timothy C., Ketudat Cairns, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956579/
https://www.ncbi.nlm.nih.gov/pubmed/36833249
http://dx.doi.org/10.3390/genes14020322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956579/
https://www.ncbi.nlm.nih.gov/pubmed/36833249
http://dx.doi.org/10.3390/genes14020322

Ejemplares similares