Does the c.-14C>T Mutation in the <i>IFITM5</i> Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Does the c.-14C>T Mutation in the <i>IFITM5</i> Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontan...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Anton Tyurin, Elena Merkuryeva, Aliya Zaripova, Tatyana Markova, Tatyana Nagornova, Ilya Dantsev, Dina Nadyrshina, Ekaterina Zakharova, Rita Khusainova
Format: Artykuł
Język:English
Wydane: MDPI AG 2022-09-01
Seria:Biomedicines
Hasła przedmiotowe:
osteogenesis imperfecta (incomplete)
interferon-induced transmembrane protein 5 gene
mutations
polymorphism
Dostęp online:https://www.mdpi.com/2227-9059/10/10/2363

Internet

https://www.mdpi.com/2227-9059/10/10/2363

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