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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP. Sullivan LS, et al. Among authors: xu m. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341. Invest Ophthalmol Vis Sci. 2017. PMID: 28549094 Free PMC article.
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, Chen R. Wang F, et al. Among authors: xu m. Invest Ophthalmol Vis Sci. 2014 Oct 14;55(11):7159-64. doi: 10.1167/iovs.14-15520. Invest Ophthalmol Vis Sci. 2014. PMID: 25316723 Free PMC article.
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Ventura MJ, et al. Among authors: xu m. Mol Genet Metab Rep. 2016 Nov 11;9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27872819 Free PMC article.
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