Title: | A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency |
Journal : | Journal of human genetics, 48, 1 |
Authors: | Smeets RJP ; Smeitink JAM ; Semmekrot BA ; Scholte HR ; Wanders RJA ; van den Heuvel LPWJ |
Material Type: | Article |
Publication Date: | 2003 |
Size: | p. 8-13 |
Languages: | English |
Keywords : | carnitine palmitoyltransferase 2 ; CPT gene ; fatty acid beta-oxidation ; genetic mutations ; mitochondria ; molecular biology ; prenatal diagnosis ; splicing |