Items for "hypotonia-cystinuria syndrome"

PREPL: a putative novel oligopeptidase propelled into the limelight

The prolyl endopeptidase-like protein PREPL has recently attracted attention because its gene is located within two contiguous gene-deletion syndromes, the 2p21 deletion syndrome and the hypotonia-cystinuria syndrome...

Keywords: activity-based probe, enzyme, FP-biotin, hypotonia-cystinuria syndrome, 2p21 deletion syndrome