Article
The natural mutation Y248C of human angiotensinogen leads to abnormal glycosylation and altered immunological recognition of the protein.
The Journal of biological chemistry - 19 Apr 1996
Gimenez-Roqueplo A P, Leconte I, Cohen P, Simon D, Guyene T T, Célerier J, Pau B, Corvol P, Clauser E, Jeunemaitre X
Abstract excerpt
Common molecular variants of the angiotensinogen gene have been associated with human hypertension. The rare Tyr to Cys change at residue 248 of mature angiotensinogen was identified in one pedigree. Heterozygous individuals (Y248C) had a 40% decrease in plasma angiotensinogen concentration and a...
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