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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

BACKGROUND: Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity. It is the most common urea cycle disorder identified in the Saudi population, which therefore prioritizes the need to de...

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Detalhes bibliográficos
Main Authors: Imtiaz, Faiqa, Al-Sayed, Moeen, Trabzuni, Danyah, Al-Mubarak, Bashair R, Alsmadi, Osama, Rashed, Mohamed S, Meyer, Brian F
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2851718/
https://ncbi.nlm.nih.gov/pubmed/20298553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-3-79
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