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

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, TRDizin)

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.