A preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia?
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CitationÖzdilli, K., Bekereçioğlu, M., Pehlivan, S. ve Büyükgüral, B. (2017). A preliminary association study in Turkish population: Do IL-17 and UCP2 Gene variants Contributes to The Ethiology of Microtia? Molecular Biology of the Cell. Philadelphia, USA, December 02-06, 2017.
Counselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2.