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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Detalles Bibliográficos
Autores principales: Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
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

Internet

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

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