ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
report a single novel putative mutation in COMMD1 in one Wilson disease (WD) patient with atypical features; absence of any other prospective mutations among 108 patients suggests that COMMD1 variants are not major contributors towards WD phenotypes
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