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

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

Abstract 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...

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Bibliographic Details
Main Authors: Kinga Sałacińska, Izabela Michałus, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna‐Sokół, Elżbieta Jakubowska‐Pietkiewicz, Łukasz Kępczyński, Dominik Salachna, Agnieszka Gach
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
collagen type I
genotype–phenotype correlation
Next Generation Sequencing
osteogenesis imperfecta
Online Access:https://doi.org/10.1002/mgg3.1996

Internet

https://doi.org/10.1002/mgg3.1996

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