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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...
Autores principales: | Imtiaz, Faiqa, Al-Sayed, Moeen, Trabzuni, Danyah, Al-Mubarak, Bashair R, Alsmadi, Osama, Rashed, Mohamed S, Meyer, Brian F |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851718/ https://www.ncbi.nlm.nih.gov/pubmed/20298553 http://dx.doi.org/10.1186/1756-0500-3-79 |
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