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A novel mutation in the SLC25A12 gene causing mitochondrial aspartate/glutamate carrier 1 (AGC1) deficiency

✍ Scribed by Falk, Marni J.; Lasorsa, Francesco M.; Li, Dong; Gai, Xiaowu; McCormick, Elizabeth; Place, Emily; Otieno, Frederick G.; Hou, Cuiping; Kim, Cecilia E.; Abdel-Magid, Nada; Vazquez, Lyam; Mentch, Frank D.; Chiavacci, Rosetta; Liang, Jinlong; Fiermonte, Giuseppe; Liu, Xuanzhu; Jiang, Hui; Giannuzzi, Giulia; Marsh, Eric D.; Guo, Yiran; Tian, Lifeng; Palmieri, Ferdinando; Hakonarson, Hakon

Book ID
125794244
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
60 KB
Volume
1837
Category
Article
ISSN
0005-2728

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## Communicated by Ulf Landegren Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated wit