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2014 | 1 |
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PubMed (OMIM) for id: 9785
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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849.
Invest Ophthalmol Vis Sci. 2018.
PMID: 30208423
Free PMC article.
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP.
Ajmal M, et al.
J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15.
J Med Genet. 2014.
PMID: 24737827
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Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.
Zhou Z, Reed R.
Zhou Z, et al.
EMBO J. 1998 Apr 1;17(7):2095-106. doi: 10.1093/emboj/17.7.2095.
EMBO J. 1998.
PMID: 9524131
Free PMC article.
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