A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
- Casals, N.
- Pié, J.
- Casale, C.H.
- Zapater, N.
- Ribes, A.
- Castro-Gago, M.
- Rodriguez-Segade, S.
- Wanders, R.J.R.
- Hegardt, F.G.
ISSN: 0022-2275
Ano de publicación: 1997
Volume: 38
Número: 11
Páxinas: 2303-2313
Tipo: Artigo