DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Blood spots ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732730
Disease: Blood spots
Blood spots 		0.020 GeneticVariation disease BEFREE On the screening side, a two-tier system of newborn screening was introduced that enabled creatine kinase levels and DMD gene analysis to be done on the same dried blood spots obtained at birth. 23716304 2013
CUI: C4732730
Disease: Blood spots
Blood spots 		0.020 GeneticVariation disease BEFREE This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations. 22451200 2012