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Deficiency of carnitine palmitoyltransferase in transformed lymphoblasts from a patient having a deficiency of carnitine palmitoyltransferase in skeletal muscle

✍ Scribed by Karl Y. Hostetler; Paul J. Yazaki


Book ID
119406849
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
363 KB
Volume
94
Category
Article
ISSN
0006-291X

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The most common mutation in muscle carnitine palmitoyltransferase II (CPT II) deficiency is a missense mutation that replaces a leucine for a serine residue at amino acid position 113 of the CPT II protein (S113L). We performed molecular analysis in a group of 14 Spanish patients with CPT II deficie