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., ...Daha Fazla

CUKUROVA MEDICAL JOURNAL, cilt.41, sa.4, ss.702-708, 2016 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.17826/cutf.254199
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.702-708
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.