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PubMed (OMIM) for id: 11081

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Page 1
A novel keratocan mutation causing autosomal recessive cornea plana.
Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS. Lehmann OJ, et al. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22. Invest Ophthalmol Vis Sci. 2001. PMID: 11726611
Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Pellegata NS, et al. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664. Nat Genet. 2000. PMID: 10802664
15 results