Published January 1, 2016
| Version v1
Journal article
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Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele
Creators
- 1. Firat Univ, Fac Med, Dept Pediat Surg, TR-23119 Elazig, Turkey
- 2. Firat Univ, Fac Med, Dept Med Biol, Elazig, Turkey
- 3. Firat Univ, Fac Med, Dept Neonatol, Elazig, Turkey
- 4. Firat Univ, Fac Med, Dept Neurosurg, Elazig, Turkey
Description
Background: To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age-and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg2+ and calcium levels were also examined.
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