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

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

Abstract 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...

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Bibliographic Details
Main Authors: Melissa Daou, Mirna Souaid, Tony Yammine, Issam Khneisser, Hicham Mansour, Nabiha Salem, Antony Nemr, Johnny Awwad, Adib Moukarzel, Chantal Farra
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
argininosuccinate synthetase
ASS1
citrullinemia type 1
Online Access:https://doi.org/10.1002/mgg3.2058

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