Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare metabolic disorder of 4-aminobutyric acid degradation, has been identified in approximately 150 patients. Affected individuals accumulate large quantities of 4-hydroxybutyric acid, a compound with a wide range of neuropharmacological act...

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Hlavní autoři: Chambliss, K L, Hinson, D D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, Gibson, K M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377305/
https://ncbi.nlm.nih.gov/pubmed/9683595
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