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Article

A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.

Pathology - 1 Apr 2012

Kwok Jeffrey Sung-Shing, Yuen Chi Lap, Law Lap Kay, Tang Nelson Leung-Sang, Cherk Sharon Wan-Wah, Yuen Yuet Ping

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PMID: 22437753
DOI: 10.1097/PAT.0b013e32835140c2

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A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.PMID 22437753Read ↗

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Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.Semantic proximity Read ↗

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