Glutaminase kidney isoform, mitochondrial
Definition:
References:
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[1]. André B P van Kuilenburg, et al. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. N Engl J Med. 2019 Apr 11;380(15):1433-1441. [Content Brief]
[2]. Lynne Rumping, et al. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. Hum Mol Genet. 2019 Jan 1;28(1):96-104. [Content Brief]
[3]. K M Elgadi, et al. Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing. Physiol Genomics. 1999 Aug 31;1(2):51-62. [Content Brief]
[4]. Lynne Rumping, et al. Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurol. 2019 Mar 1;76(3):342-350. [Content Brief]
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