The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype appears to be influen...

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Detalles Bibliográficos
Autores principales: Sałacińska, Kinga, Michałus, Izabela, Pinkier, Iwona, Rutkowska, Lena, Chlebna‐Sokół, Danuta, Jakubowska‐Pietkiewicz, Elżbieta, Kępczyński, Łukasz, Salachna, Dominik, Gach, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356551/
https://www.ncbi.nlm.nih.gov/pubmed/35748117
http://dx.doi.org/10.1002/mgg3.1996

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