. . . . . . . . . . . . "[GTG-banded karyotype from peripheral blood was done to detect any mutation, specifically trisomy 21, but the proband revealed trisomy 12 and denaturing polyacrylamide gel electrophoresis (PAGE) detected mutation in exon 2 of GATA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:35:21+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .