Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

BACKGROUND: Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late‐onset, or “unconventional” form. To date, more than 93 variants in the ASS1 gene loc...

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Detalles Bibliográficos
Autores principales: Daou, Melissa, Souaid, Mirna, Yammine, Tony, Khneisser, Issam, Mansour, Hicham, Salem, Nabiha, Nemr, Antony, Awwad, Johnny, Moukarzel, Adib, Farra, Chantal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938749/
https://www.ncbi.nlm.nih.gov/pubmed/36680390
http://dx.doi.org/10.1002/mgg3.2058

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