Search Results - Demirci, F.Yesim K.

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    A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene ( RLBP1) in a patient with retinitis punctata albescens

    A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene ( RLBP1) in a patient with retinitis punctata albescens by 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

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

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