A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

BACKGROUND: Citrullinemia type I (CTLN1, MIM #215700) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate synthase (ASS). CTLN1 is characterized by life-threatening hyperammonemia and risk for resulting neurocognitive impairments. The diagnosis of CTLN1 is confirm...

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Bibliographic Details
Published in:Mol Genet Metab Rep
Main Authors: Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Format: Artigo
Language:Inglês
Published: Elsevier 2020
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Research Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7330059/
https://ncbi.nlm.nih.gov/pubmed/32637322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100619
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