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, ss.702-708, 2016 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 41 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.17826/cutf.254199
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.702-708

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.