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MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction
Author(s) -
Ehrnhoefer DE
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01247_1.x
Subject(s) - genetics , enzyme , mutation , molecular genetics , newborn screening , mechanism (biology) , biology , gene , medicine , biochemistry , philosophy , epistemology
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening Maier et al. (2009) Human Molecular Genetics 18: 1612–1623