Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, Alaei MR, Salehpour S, Amirkashani D, Setoodeh A, Sarkhail P, Badv RS, Aminzadeh M, Shiva S, Eshraghi P, Moravej H, Hashemipour M, Rostampour N, Hamidieh AA, Shamsian BS, Shams S, Zamanfar D, Ebrahimi A, Otadi A, Tara SZ, Barati Z, Fakhri L, Hoseini A, Amiri H, Ramandi S, Mostofinezhad N, Kani ZP, Mohammadyari E, Khosravi M, Saadati M, Hoseininasab F, Khorram Khorshid HR, Modaberisaber Y.
Ghaffari SR, et al.
Hum Mutat. 2022 Apr;43(4):e1-e23. doi: 10.1002/humu.24328. Epub 2022 Feb 3.
Hum Mutat. 2022.
PMID: 35005816
Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281C>A [p.Ser94*]), GALNS (c.319G>A [p.Ala107Thr], c.860C>T [p.Ser287Leu], c.1042A>G [p.Thr348Ala]), and IDUA (c.1A>C [p. …
Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281 …