Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.

Autor: Köroğlu, Muhammed1 (AUTHOR), Karakaplan, Mustafa1 (AUTHOR) karakaplanmb@gmail.com, Gündüz, Enes2 (AUTHOR), Kesriklioğlu, Betül3 (AUTHOR), Ergen, Emre1 (AUTHOR), Aslantürk, Okan1 (AUTHOR), Özdemir, Zeynep Maraş4 (AUTHOR)
Zdroj: Orphanet Journal of Rare Diseases. 2/9/2024, Vol. 19 Issue 1, p1-13. 13p.
Databáze: Academic Search Ultimate
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