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Description
The diagnosis is confirmed by measuring low carnitine uptake in the patients fibroblasts or by DNA sequencing of the SLC22A5 gene encoding the OCTN2 carnitine transporter
Chiechio S, Copani A, De Petris L, et al
An animal model of Peyronies-like condition associated with an increase of transforming growth factor beta mRNA and protein expression
Gut 73(4): 691702
