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Year | Number of Results |
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2006 | 1 |
2007 | 1 |
2008 | 1 |
2010 | 1 |
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Page 1
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
Arch Ophthalmol. 2010 Jan;128(1):107-13. doi: 10.1001/archophthalmol.2010.309.
Arch Ophthalmol. 2010.
PMID: 20065226
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R.
den Hollander AI, et al.
Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3.
Nat Genet. 2007.
PMID: 17546029
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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF.
Woods CG, et al.
Am J Hum Genet. 2006 May;78(5):889-896. doi: 10.1086/503875. Epub 2006 Mar 21.
Am J Hum Genet. 2006.
PMID: 16642444
Free PMC article.
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF.
Ali M, et al.
Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30.
Mol Vis. 2008.
PMID: 18978954
Free PMC article.
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