Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene

scientific article

Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID1682077
P698PubMed publication ID8096362

P50authorDean R. TolanQ44689428
P2093author name stringC C Brooks
D R Tolan
P2860cites workCatalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutationQ24298317
Complete amino acid sequence for human aldolase B derived from cDNA and genomic clonesQ24596462
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in YugoslaviaQ24615774
Molecular architecture of rabbit skeletal muscle aldolase at 2.7-A resolutionQ24633329
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymeraseQ26778389
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9Q28181962
The metabolism of fructose-1-phosphate in the liverQ28208597
Molecular analysis of aldolase B genes in hereditary fructose intoleranceQ28254811
Construction of a genetic linkage map in man using restriction fragment length polymorphismsQ28263594
The structural gene for aldolase B (ALDB) maps to 9q13----32Q28286900
Characterization of the human aldolase B geneQ28287603
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intoleranceQ35197051
Molecular evidence for compound heterozygosity in hereditary fructose intoleranceQ35198380
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B geneQ35198508
Nonuniform recombination within the human beta-globin gene clusterQ35200412
Spot-blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9.Q36498801
Hereditary fructose intolerance: A difficult diagnosis in the adultQ40187114
Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresisQ40568909
Partial aldolase B gene deletions in hereditary fructose intoleranceQ40586253
Aldolase B mutations in Italian families affected by hereditary fructose intoleranceQ41666221
Location of gene for Gorlin syndromeQ42452971
Fatal sorbitol infusion in patient with fructose-sorbitol intoleranceQ43493490
IDIOSYNCRASY TO FRUCTOSEQ56429324
Identification of the C-1-Phosphate-Binding Arginine Residue of Rabbit-Muscle Aldolase. Isolation of 1,2-Cyclohexanedione-Labeled Peptide by Chemisorption ChromatographyQ66959636
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletionQ67344802
Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North AmericansQ68044472
Mutation of aldolase B genes in hereditary fructose intoleranceQ68085397
Mapping of a restriction fragment length polymorphism within the human aldolase B geneQ69906458
Hereditary fructose intoleranceQ70268377
[Anomaly of hepatic aldolase in intolerance to fructose.]Q79408429
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)835-840
P577publication date1993-04-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAssociation of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene
P478volume52

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cites work (P2860)
Q28638020Hereditary fructose intolerance
Q41477444Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
Q43834234Mutation analysis in Turkish patients with hereditary fructose intolerance
Q42663235Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population
Q44363157Simple method for detection of mutations causing hereditary fructose intolerance