The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Luleyap U., PAZARCI P., CÖMERTPAY G., Onenli H. N., PAZARBAŞI A., ALPTEKİN D., ...More

CUKUROVA MEDICAL JOURNAL, vol.41, no.4, pp.702-708, 2016 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.17826/cutf.254199
  • Journal Name: CUKUROVA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.702-708
  • Çukurova University Affiliated: Yes

Abstract

Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed.