Argininosuccinate synthetase
The ASS gene encodes argininosuccinate synthetase, a liver enzyme involved in nitrogen disposal. Loss-of-function mutations affecting this gene cause autosomal recessive citrullinemia type 1 (classic).
Genetests:
Related Diseases:
References:
1. |
Kobayashi K et al. (1990) Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
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2. |
Orphanet article
Orphanet ID 121468
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3. |
NCBI article
NCBI 445
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4. |
OMIM.ORG article
Omim 603470
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5. |
Wikipedia article
Wikipedia EN (Argininosuccinate_synthase)
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Update: Aug. 14, 2020