Identification of novel mutations in the
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Alessandra Tessa; Giuseppe Fiermonte; Carlo Dionisi-Vici; Eleonora Paradies; Mat
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Article
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2009
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John Wiley and Sons
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English
⚖ 306 KB
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande