TRNT1 deficiency: clinical, biochemical and molecular genetic features
نویسندگان
چکیده
منابع مشابه
TRNT1 deficiency: clinical, biochemical and molecular genetic features
BACKGROUND TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance durin...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2016
ISSN: 1750-1172
DOI: 10.1186/s13023-016-0477-0