Article
Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C --> T) with plasma dopamine beta-hydroxylase activity.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Nov 2005
Tang Yilang, Anderson George M, Zabetian Cyrus P, Köhnke Michael D, Cubells Joseph F
Abstract excerpt
The DBH locus controls plasma dopamine beta-hydroxylase activity (pDbetaH). A 5'-upstream single nucleotide polymorphism (SNP) at DBH (-1021C --> T) explains approximately 45% of the variance in pDbetaH, and a non-synonymous SNP in exon 11 (+ 1603C --> T) an additional 2%. However, that regression result underestimates the effect of + 1603C --> T because of its low minor allele frequency. We estimated the...
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