Velasco Pinto et al., 2021 - Google Patents
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function …Velasco Pinto et al., 2021
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- 12785520488167374640
- Author
- Velasco Pinto K
- St-Louis J
- Hovland H
- Thompson N
- Ottesen
- Choi M
- Pedersen L
- Njølstad P
- Arnesen T
- Fjeld K
- Aukrust I
- Myklebust L
- Molven A
- Publication year
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Snippet
Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as recessive HADH mutations cause congenital …
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