Title : Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.

Pub. Date : 2020 Aug 29

PMID : 32872468






1 Functional Relationships(s)
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1 They had been screened by whole exome sequencing (WES) which led to the discovery of a missense variant p.(Leu213Gln) in AKR1C1, the gene encoding for an aldo-keto reductase catalyzing the reduction of progesterone to its inactive form, 20-alpha-hydroxyprogesterone. Progesterone aldo-keto reductase family 1 member C1 Homo sapiens