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apolipoprotein C-II (Padova)

a cysteine (C) to alanine (A) substitution at position 3002 in the APOC2 gene resulting in a premature stop codon for Tyr (residue 37); as apolipoprotein C-II deficiency in an Italian kindred
Also Known As:
Apo C-II (Padova); ApoCII Padova; apolipoprotein CII Padova
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Bio-Agent Context: Research Results