Hematology

General Neurology

Questions discussed in this category

How will you treat a young man with recurrent cryptogenic strokes with no identifiable cause, with MTHFR A1298C homozygous mutation and normal homocysteine level?

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Papers discussed in this category

Cancer causes & control : CCC, 2010-03

Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.

Atherosclerosis, 2001-06

The 1298A-->C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine.

The American journal of clinical nutrition, 2008-10

Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.

Circulation. Cardiovascular genetics, 2008-12

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2012-01

Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC).

Human genetics, 2012-05

Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians.

PeerJ, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Nature, 2016-08-18

Analysis of protein-coding genetic variation in 60,706 humans.

Hematology

General Neurology

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