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

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 intra...

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出版年:	The Turkish Journal of Pediatrics
主要な著者:	Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan
フォーマット:	論文
言語:	英語
出版事項:	Hacettepe University Institute of Child Health 2017-06-01
主題:	citrin deficiency novel mutation prolonged neonatal jaundice
オンライン･アクセス:	https://turkjpediatr.org/article/view/991