𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex

✍ Scribed by Heiko Reutter; Tim Becker; Michael Ludwig; Niklas Schäfer; Birte Detlefsen; Sylvie Beaudoin; Margit Fisch; Anne-Karoline Ebert; Wolfgang Rösch; Markus M. Nöthen; Thomas M. Boemers; Regina C. Betz

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
83 KB
Volume
140A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Distribution of alleles of the methylene
Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida
✍ Johnson, William G.; Stenroos, Edward S.; Heath, Simon C.; Chen, Yanping; Carrol 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

Spina bifida cystica (SB) is one of the most common and disabling of birth defects. Folic acid supplementation in mothers during the periconceptional period has been shown to prevent more than 70% of neural tube defects (NTD) including SB. However, the mechanism is unknown. We tested a series of mul

Linkage disequilibrium of MTHFR genotype
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD)
✍ Stegmann, Karolin; Ziegler, Andreas; Ngo, Ernestine T. K. M.; Kohlschmidt, Nicol 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

A number of studies have demonstrated that the common polymorphism 677C→T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent