A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand

Human Mutation

Volumn 7, Issue 2, 1996, Pages 155-157

  Ali, Manir ^a   James, Carolyn L ^a   Cox, Timothy M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FRUCTOSE BISPHOSPHATE ALDOLASE; ISOENZYME;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; LABORATORY DIAGNOSIS; NEW ZEALAND; PRIORITY JOURNAL;

ADULT; ELECTROPHORESIS, AGAR GEL; FEMALE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; GENETIC SCREENING; HUMANS; NEW ZEALAND; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING;

EID: 0030005122     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:2<155::aid-humu11>3.0.co;2-1     Document Type: Article

References (11)

1. Blakemore AIF, Singleton H, Pollitt RJ, Engel PC, Kolvraa S, Gregersen N, Curtis D (1991) Frequency of the G985 MCAD mutation in the general population. Lancet 337:298-299.
2. Chambers RA, Pratt RTC (1956) Idiosyncrasy to Fructose. Lancet 2:340.
3. Cox TM (1994) Aldolase B and fructose intolerance. FASEB J 8:62-71.
4. Craxton M (1991) Linear amplification sequencing, a powerful method for sequencing DNA. Methods Enzymol 3:20-26.
5. Cross NCP, Cox TM (1989) Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Q J Med 73:1015-1020.
6. Cross NCP, Tolan DR, and Cox TM (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 53:881-885.
7. Cross NCP, de Franchis R, Sebastio R, Dazzo C, Tolan DR, Grégori C, Odièvre M, Vidailhet M, Romano V, Mascali G, Romano C, Musemeci S, Steinmann B, Gitzelmann R, Cox TM (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet 335:306-309.
8. Gamblin SJ, Davies GJ, Grimes JM, Littlechild JA, Watson HC (1991) Activity and specificity of human aldolases. J Mol Biol 219:573-576.
9. Gitzelmann R, Steinmann B, Van den Berghe G (1989) Disorders of fructose metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. 6th Ed. New York: McGraw-Hill pp 344-424.
10. Tolan DR, Brooks CC (1992) Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans. Biochem Med Metab Biol 48:19-25.
11. Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 302:591-596.