Identification of three novel mutations in fourteen patients with citrullinemia type 1

Kose, ENGİN; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Häberle, Johannes; ARSLAN, NUR

doi:10.1016/j.clinbiochem.2017.01.011

Identification of three novel mutations in fourteen patients with citrullinemia type 1

Kose E., Unal O., Bulbul S., Gunduz M., Häberle J., ARSLAN N.

CLINICAL BIOCHEMISTRY, cilt.50, sa.12, ss.686-689, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 50 Sayı: 12
Basım Tarihi: 2017
Doi Numarası: 10.1016/j.clinbiochem.2017.01.011
Dergi Adı: CLINICAL BIOCHEMISTRY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.686-689
Ankara Üniversitesi Adresli: Hayır

Özet

Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1.