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
✦ LIBER ✦
Molecular analysis of Spanish patients with AMP deaminase deficiency
✍ Scribed by Juan C. Rubio; Miguel A. Martín; Pilar Del Hoyo; Juan Bautista; Yolanda Campos; Dolores Segura; Carmen Navarro; Jose R. Ricoy; Ana Cabello; Joaquin Arenas
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 128 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-639X
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