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Patient UK
- ... retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005 Jun;42(6):e35. ...
- ... basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat. 2004 Feb;23(2): ...
- ... Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group. Mutation in GNE is associated ... RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim Biophys Acta. 2006 Jun;1762( ...