p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency

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Seker-Yilmaz B., KOR D., TÜMGÖR G., Ceylaner S., Onenli-Mungan N.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.3, ss.311-314, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.03.012
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.311-314
  • Çukurova Üniversitesi Adresli: Evet

Özet

Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the main clinical presentations is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency.