Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

doi:10.1002/ajmg.1320360111

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Article

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

American journal of medical genetics - 1 May 1990

McGill J J, Mettler G, Rosenblatt D S, Scriver C R

Abstract excerpt

Excess homocysteine in body fluids has been implicated as a factor in the pathogenesis of occlusive vascular disease (peripheral and cerebrovascular arterial disease, and perhaps coronary artery disease). Heterozygotes for inborn errors of homocysteine metabolism (transsulfuration or remethylatio...

Topics

Alleles
Cystathionine beta-Synthase
Female
Genes, Recessive
Genetic Carrier Screening
Homocysteine
Homocystine
Homocystinuria
Humans
Male
Phenotype
Predictive Value of Tests

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