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Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing (2014)
Journal Article
Váradi, A., Rajatileka, S., Luyt, K., Williams, M., Harding, D., Odd, D., …Varadi, A. (2014). Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing. BMC Genetics, 15, https://doi.org/10.1186/1471-2156-15-80

Background: Single-strand conformational polymorphism (SSCP) is still a frequently used genotyping method across different fields for the detection of single nucleotide polymorphisms (SNPs) due to its simplicity, requirement for basic equipment acces... Read More about Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: Comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing.

Hb fontainebleau (hba2: C.64g>c) in the united arab emirates (2014)
Journal Article
Turner, A., Sasse, J., & Varadi, A. (2014). Hb fontainebleau (hba2: C.64g>c) in the united arab emirates. Hemoglobin, 38(3), 216-220. https://doi.org/10.3109/03630269.2014.912221

Hb Fontainebleau (HBA2: c.64G>C) is a rare α-globin variant, which has previously been described in only 10 individuals worldwide. We report here 12 additional cases identified in our laboratory. These included the first case of a homozygosity for Hb... Read More about Hb fontainebleau (hba2: C.64g>c) in the united arab emirates.