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A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.
Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M.
Hum Mutat. 2000.
PMID: 10862096
No abstract available.
A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.
Murton NJ, French L, Toomes C, Joseph SS, Rehman I, Hopkins BL, Inglehearn CF, Churchill AJ.
Murton NJ, et al.
Cytogenet Cell Genet. 2001;92(1-2):97-102. doi: 10.1159/000056876.
Cytogenet Cell Genet. 2001.
PMID: 11306804
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