Title : Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Pub. Date : 2019 Sep

PMID : 31273323






2 Functional Relationships(s)
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Compound Name
Protein Name
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1 It is an inborn error of lipid metabolism caused by biallelic mutations in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase that plays a pivotal role in metabolism of long-chain aliphatic aldehydes and alcohols. Alcohols aldehyde dehydrogenase 3 family member A2 Homo sapiens
2 It is an inborn error of lipid metabolism caused by biallelic mutations in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase that plays a pivotal role in metabolism of long-chain aliphatic aldehydes and alcohols. Alcohols aldehyde dehydrogenase 3 family member A2 Homo sapiens