Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Author: Burwinkel B.   Kreuder J.   Schweitzer S.   Vorgerd M.   Gempel K.   Gerbitz K-D.   Kilimann M.W.  

Publisher: Elsevier

ISSN: 0006-291X

Source: Biochemical and Biophysical Research Communications, Vol.261, Iss.2, 1999-08, pp. : 484-487

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