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Carnitine levels in normal children and adults and in patients with diseased muscle

✍ Scribed by Dr. Henri N. Carrier; Dr. Gisèle Berthillier


Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
893 KB
Volume
3
Category
Article
ISSN
0148-639X

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✍ Miguel A. Martín; Juan C. Rubio; Fernando De Bustos; Pilar Del Hoyo; Yolanda Cam 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 2 views

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