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

Kose, Engin; Unal, ÖZLEM; Bulbul, Selda; Gunduz, Mehmet; Haeberle, Johannes; Arslan, Nur

doi:10.1016/j.clinbiochem.2017.01.011

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

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Kose E., Unal Ö., Bulbul S., Gunduz M., Haeberle J., Arslan N.

CLINICAL BIOCHEMISTRY, vol.50, no.12, pp.686-689, 2017 (SCI-Expanded)

Publication Type: Article / Article
Volume: 50 Issue: 12
Publication Date: 2017
Doi Number: 10.1016/j.clinbiochem.2017.01.011
Journal Name: CLINICAL BIOCHEMISTRY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.686-689
Kocaeli University Affiliated: Yes

Abstract

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.