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Case Reports

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations

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Pages 91-94 | Received 11 Nov 2015, Accepted 07 Jan 2016, Published online: 04 Apr 2016

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Sara Hemmati, Golnaz Khakpour, Fatemeh Nadjafi-Semnani, Arzhang Gordiz, Masoome Sajadi & Fatemeh Abdi. (2022) Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion. Ophthalmic Genetics 43:1, pages 140-142.
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Articles from other publishers (4)

Xi Liu, Yu Li, Menghan Wang, Xiaojun Wang, Limin Zhang, Tao Peng, Wenping Liang, Zhe Wang & Hong Lu. (2020) The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation. Aging 13:1, pages 1176-1185.
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Hemavathy Nagarajan, Saratha Narayanaswamy & Umashankar Vetrivel. (2020) Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 819-820, pages 111687.
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Ke Shang, Hui Li & Xiang Luo. (2019) Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation. Medicine 98:6, pages e14349.
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Scott R. Lambert, Payton M. Miller, Janine Smith-Marshall & Natario L. Couser. 2019. Ophthalmic Genetic Diseases. Ophthalmic Genetic Diseases 81 97 .

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