- Homozygous VN (677C to T) and d/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age
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Song KS, Song JW, Choi JR, Kim HK, Shin JS, Kim JH
- KMID: 1085748
- Exp Mol Med.
- 2001 Jun;33(2):106-109.
Hyperhomocysteinemia is known to be associated with an increased risk of myocardial infarction, stroke, peripheral arterial disease, and venous thrombosis. Gene polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS)... -
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- Bilateral Retinal Dysplasia and Secondary Glaucoma Associated with Homozygous Protein C Deficiency
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Park UC, Choung HK, Kim SJ, Yu YS
- KMID: 754407
- Korean J Ophthalmol.
- 2005 Jun;19(2):112-115.
- doi: 10.3341/kjo.2005.19.2.112
PURPOSE: Protein C deficiency is an autosomal recessive disorder, which predisposes the patient to potentially blinding and widespread lethal thromboembolic complications, especially in the homozygous type. We here report the... -
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