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
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency
✍ Scribed by Miguel A. Martín; Juan C. Rubio; Pilar del Hoyo; Alberto García; Fernando Bustos; Yolanda Campos; Ana Cabello; José M. Culebras; Joaquín Arenas
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 102 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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