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

Luleyap, Umit; PAZARCI, PERÇİN; CÖMERTPAY, GAMZE; Onenli, H.NESLİHAN; PAZARBAŞI, AYFER; ALPTEKİN, DAVUT; KASAP, HALİL; FROSTER, Ursula

doi:10.17826/cutf.254199

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

Atıf İçin Kopyala

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

CUKUROVA MEDICAL JOURNAL, cilt.41, ss.702-708, 2016 (ESCI İndekslerine Giren Dergi)

Cilt numarası: 41 Konu: 4
Basım Tarihi: 2016
Doi Numarası: 10.17826/cutf.254199
Dergi Adı: CUKUROVA MEDICAL JOURNAL
Sayfa Sayısı: 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.