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Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20.
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ. Yellore VS, et al. Genet Med. 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. Genet Med. 2007. PMID: 17438387 Free article.
A portion of this refined interval overlaps a more recently reported posterior polymorphous corneal dystrophy 1 interval, with only 20 known and predicted genes mapped to the 2.4 cM common interval....
A portion of this refined interval overlaps a more recently reported posterior polymorphous corneal dystrophy 1 interval, with only 20 known …
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.
Lai IN, Yellore VS, Rayner SA, D'Silva NC, Nguyen CK, Aldave AJ. Lai IN, et al. Mol Vis. 2010 Dec 18;16:2829-38. Mol Vis. 2010. PMID: 21203404 Free PMC article.
In both individuals, approximately 0.5% of the identified variants mapped to the 13 known and 16 predicted genes in the PPCD1 support interval, including 16 of the 17 (94%) variants previously identified by Sanger sequencing in the 13 known genes. ...
In both individuals, approximately 0.5% of the identified variants mapped to the 13 known and 16 predicted genes in the PPCD1 support …