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12. A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family. Kiehntopf M; Varga RE; Koch HG; Beetz C Gene; 2012 Mar; 495(1):89-92. PubMed ID: 22209718 [TBL] [Abstract][Full Text] [Related]
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