Lipoprotein lipase gene sequencing and plasma lipid profile von Pirim, Dilek, Wang, Xingbin, Radwan, Zaheda H., Niemsiri, Vipavee, Hokanson, John E., Hamman, Richard F., Barmada, M.Michael, Demirci, F.Yesim, Kamboh, M.Ilyas

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X-Linked Recessive Atrophic Macular Degeneration from RPGR Mutation von Ayyagari, Radha, Demirci, F.Yesim, Liu, Jiafan, Bingham, Eve L., Stringham, Heather, Kakuk, Laura E., Boehnke, Michael, Gorin, Michael B., Richards, Julia E., Sieving, Paul A.

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A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene ( RLBP1) in a patient with retinitis punctata albescens von Demirci, F.Yesim K, Rigatti, Brian W, Mah, Tammy S, Gorin, Michael B

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A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping von Demirci, F.Yesim K., Radak, Amy L., Rigatti, Brian W., Mah, Tammy S., Gorin, Michael B.

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