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Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F)

Al-Ghadeer Huda, Mohamed Jawahir Y, Khan Arif O

Year : 2011| Volume: 18| Issue : 1 | Page no: 61-64

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1 Phenotype–Genotype Correlation in Patients With Schnyder Corneal Dystrophy
Anna K. Nowinska,Edward Wylegala,Slawomir Teper,Anita Lyssek-Boron,Pasquale Aragona,Anna M. Roszkowska,Antonio Micali,Antonina Pisani,Domenico Puzzolo
Cornea. 2014; 33(5): 497
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2 Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression
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3 The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes
Nickerson, M.L. and Bosley, A.D. and Weiss, J.S. and Kostiha, B.N. and Hirota, Y. and Brandt, W. and Esposito, D. and Kinoshita, S. and Wessjohann, L. and Morham, S.G. and Andresson, T. and Kruth, H.S. and Okano, T. and Dean, M.
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4 A Case of Schnyder Corneal Dystrophy with Crystals
Trennda L. Rittenbach
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5 The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes
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6 A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy
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