Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

Osteogenesis imperfecta (OI) is a rare genetic disorder demonstrating considerable phenotypic and genetic heterogeneity. The extensively studied genotype–phenotype correlation is a crucial issue for a reliable counseling, as the disease is recognized at increasingly earlier stages of life, including...

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Detalles Bibliográficos
Autores principales: Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Jaszczuk, Ilona, Jakubowski, Lucjusz, Gach, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301378/
https://www.ncbi.nlm.nih.gov/pubmed/34306033
http://dx.doi.org/10.3389/fgene.2021.692978

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301378/
https://www.ncbi.nlm.nih.gov/pubmed/34306033
http://dx.doi.org/10.3389/fgene.2021.692978

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