Artículos de revistas
Sjögren-larsson Syndrome In Brazil Is Caused By A Common C.1108-1g → C Splice-site Mutation In The Aldh3a2 Gene
Registro en:
British Journal Of Dermatology. , v. 154, n. 4, p. 770 - 773, 2006.
70963
10.1111/j.1365-2133.2006.07135.x
2-s2.0-33644867611
Autor
Auada M.P.
Puzzi M.B.
Cintra M.L.
Steiner C.E.
Alexandrino F.
Sartorato E.L.
Aguiar T.S.
Azulay R.D.
Carney G.
Rizzo W.B.
Institución
Resumen
[No abstract available] 154 4 770 773 Rizzo, W.B., Sjögren-Larsson syndrome: Fatty aldehyde dehydrogenase deficiency (2001) The Metabolic and Molecular Bases of Inherited Disease*Scriver C.R.*Beckman K.*Small G.M.*Valle D. Eds, pp. 2239-58. , In. McGraw-Hill New York Vol. 2 Rizzo, W.B., Carney, G., Lin, Z., The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene (1999) Am J Hum Genet, 65, pp. 1547-60 Rizzo, W.B., Carney, G., Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2) (2005) Hum Mutat, 26, pp. 1-10 Auada, M.P., Taube, M.B., Collares, E.F., Sjögren-Larsson syndrome: Biochemical defects and follow up in three cases (2002) Eur J Dermatol, 12, pp. 263-6 Kelson, T.L., Secor, M., Rizzo, W.B., Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization (1997) Biochim Biophys Acta, 1335, pp. 99-110 De Laurenzi, V., Rogers, G.R., Hamrock, D.J., Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene (1996) Nat Genet, 12, pp. 52-7 Carney, G., Wei, S., Rizzo, W.B., Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2 (2004) Hum Mutat, 24, p. 186 De Laurenzi, V., Rogers, G.R., Tarcsa, E., Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients (1997) J Invest Dermatol, 109, pp. 79-83