Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Autor: F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

Abstract Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor, which is requir

Externí odkaz: https://doaj.org/article/115d3796e65044eba6f160d2f0c9814b

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Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.

Autor: Sardarpour N; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran., Bagherian H; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran., Zafarghandi Motlagh F; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran., Shirzadeh T; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran., Asnavandi S; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran., Younesikhah S; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran., Salehpour S; Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Setoodeh A; Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Alaei MR; Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Zeinali S; Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, Iran.

Publikováno v: International journal of molecular and cellular medicine [Int J Mol Cell Med] 2023; Vol. 12 (1), pp. 40-50.