A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

Keyphrases

• Adult Life 33%
• Carnitine Palmitoyltransferase 2 33%
• Carnitine Palmitoyltransferase II Deficiency 100%
• Early Adults 33%
• Exon 3 33%
• Molecular Genetic Analysis 33%
• Muscle Weakness 33%
• Myalgia 33%
• Novel mutation 33%
• Older Men 33%
• Pathogenic Role 33%
• Quantitative PCR 33%
• Reaction Products 33%
• Skipping 33%
• Splice Junction 100%

Biochemistry, Genetics and Molecular Biology

• Allele 66%
• Carnitine O-Palmitoyltransferase 33%
• Carnitine Palmitoyltransferase II Deficiency 100%
• Exon 33%
• Intron 33%
• Molecular Genetics 33%
• Reverse Transcription Polymerase Chain Reaction 33%

Neuroscience

• Carnitine O-Palmitoyltransferase 33%
• Carnitine Palmitoyltransferase II 100%
• Exon 33%
• Intron 33%
• Myalgia 33%
• Reverse Transcription Polymerase Chain Reaction 33%