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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330059/ https://www.ncbi.nlm.nih.gov/pubmed/32637322 http://dx.doi.org/10.1016/j.ymgmr.2020.100619 |