REFERENCES
Ali, M. and T. M. Cox (1995). Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance [letter]. American Journal of Human Genetics 56: 1002-1005.
Ali, M., C. L. James and T. M. Cox (1996).
A newly identified aldolase B
splicing mutation (G-->C, 5' intron 5) in
hereditary fructose intolerance from
Ali, M., P. Rellos and T. M. Cox (1998). Hereditary fructose intolerance. Journal of Medical Genetics 35: 353-365.
Ali, M., U. Rosien
and T. M. Cox (1993).
Ali, M., G. Sebastio and T. M. Cox (1994a). Identification of a novel mutation (Leu 256 -> Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Human Molecular Genetics 3: 203-204; 684.
Ali, M., G. Tuncman, N. Cross, M. Vidailhet,
Antonarakis, S. E. and t. N. W. Group (1998). Recomendations for a nomenclature system for human gene mutations. Human Mutation 11: 1-3.
Besmond, C., J. C. Dreyfus, C. Gregori, M. Frain, M. M. Zakin, S.-T. J. and A. Kahn (1983). Nucleotide sequence of a cDNA clone for human aldolase B. Biochemical and Biophysical Research Communications 117: 601-609.
Brooks, C. C., N. Buist, J. Tuerck and D. R. Tolan (1991). Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. American Journal of Human Genetics 49: 1075-81.
Brooks, C. C. and D. R. Tolan (1993). Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. Am J Hum Genet 52: 835-40.
Brooks, C. C. and D. R. Tolan (1994). A partially active mutant aldolase B from a patient with hereditary fructose intolerance. FASEB Journal 8: 107-113.
Cross, N. C. and T. M. Cox (1989). Molecular analysis of aldolase B genes in
the diagnosis of hereditary fructose intolerance in the
Cross, N. C. and T. M. Cox (1990). Partial aldolase B gene deletions in hereditary fructose intolerance. American Journal of Human Genetics 47: 101-106.
Cross, N. C., R. de Franchis, G. Sebastio, C. Dazzo, D. R. Tolan, C. Gregori, M. Odievre, M. Vidailhet, V. Romano, G. Mascali and et al. (1990a). Molecular analysis of aldolase B genes in hereditary fructose intolerance [see comments]. Lancet 335: 306-309.
Cross, N. C. P., L. M. Stojanov
and T. M. Cox (1990b). A new aldolase B
variant, N334K, is a common cause of hereditary fructose intolerance in
Cross, N. C. P., D. R. Tolan and T. M. Cox (1988). Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 53: 881-885.
Dazzo, C. and D. R. Tolan (1990). Molecular evidence for compound heterozygosity in hereditary fructose intolerance. American Journal of Human Genetics 46: 1194-1199.
Kajihara, S., T. Mukai, Y. Arai, M. Owada, T. Kitagawa and K. Hori (1990). Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. American Journal of Human Genetics 47: 562-567.
Paolella, G., R. Santamaria, P. Buono and F. Salvatore (1987). Mapping of a restriction fragment length polymorphism within the human aldolase B gene. Human Genetics 77: 115-117.
Pappas, D. J. and D. R. Tolan (1997).
Identification and characterization of a unique insertion mutation inÝ a French-Canadian
family with hereditary fructose intolerance. Seventh International Congress of Inborn
Errors of Metabolism,
Rellos, P., M. Ali, M. Vidailhet, J. Sygusch and T. M. Cox (1999). Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337 Æ Val) in fructose intolerance. Biochemical Journal 340: 321-327.
Sadakane, Y. and K. Hori (1991). The Msp I restriction fragment length polymorphism of human aldolase B gene on chromoasome 9q21.3-q.22.2. Japanese Journal of Human Genetics 36: 325-329.
Santamaria, R., S. Tamasi, G. Del Piano, G. Sebastio,
G. Andria, C. Borrone, G. Faldella, P. Izzo and F.
Salvatore (1996). Molecular basis of hereditary fructose intolerance in
Tolan, D. R. (1995). Molecular basis of hereditary fructose intolerance:Ý mutations and polymorphisms in the human aldolase B gene. Human Mutation 6: 210-218.
Tolan, D. R., A. B. Amsden, S. D. Putney, M. S. Urdea and E. E. Penhoet (1984). The complete nucleotide sequence for rabbit muscle aldolase A messenger RNA. Journal of Biological Chemistry 259: 1127-1131.
Tolan, D. R. and E. E. Penhoet (1986). Characterization of the human aldolase B gene. Molecular Biology and Medicine 3: 245-264.