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Transport of carnitine into cells in hereditary carnitine deficiency

โœ Scribed by B. O. Eriksson; B. Gustafson; S. Lindstedt; I. Nordin

Book ID
105313266
Publisher
Springer
Year
1989
Tongue
English
Weight
274 KB
Volume
12
Category
Article
ISSN
0141-8955

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## Communicated by Nancy Spinner Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which miss