scholarly article | Q13442814 |
P50 | author | Dean R. Tolan | Q44689428 |
P2093 | author name string | C C Brooks | |
D R Tolan | |||
P2860 | cites work | Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation | Q24298317 |
Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones | Q24596462 | ||
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia | Q24615774 | ||
Molecular architecture of rabbit skeletal muscle aldolase at 2.7-A resolution | Q24633329 | ||
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase | Q26778389 | ||
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9 | Q28181962 | ||
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Construction of a genetic linkage map in man using restriction fragment length polymorphisms | Q28263594 | ||
The structural gene for aldolase B (ALDB) maps to 9q13----32 | Q28286900 | ||
Characterization of the human aldolase B gene | Q28287603 | ||
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance | Q35197051 | ||
Molecular evidence for compound heterozygosity in hereditary fructose intolerance | Q35198380 | ||
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene | Q35198508 | ||
Nonuniform recombination within the human beta-globin gene cluster | Q35200412 | ||
Spot-blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9. | Q36498801 | ||
Hereditary fructose intolerance: A difficult diagnosis in the adult | Q40187114 | ||
Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis | Q40568909 | ||
Partial aldolase B gene deletions in hereditary fructose intolerance | Q40586253 | ||
Aldolase B mutations in Italian families affected by hereditary fructose intolerance | Q41666221 | ||
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Fatal sorbitol infusion in patient with fructose-sorbitol intolerance | Q43493490 | ||
IDIOSYNCRASY TO FRUCTOSE | Q56429324 | ||
Identification of the C-1-Phosphate-Binding Arginine Residue of Rabbit-Muscle Aldolase. Isolation of 1,2-Cyclohexanedione-Labeled Peptide by Chemisorption Chromatography | Q66959636 | ||
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion | Q67344802 | ||
Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans | Q68044472 | ||
Mutation of aldolase B genes in hereditary fructose intolerance | Q68085397 | ||
Mapping of a restriction fragment length polymorphism within the human aldolase B gene | Q69906458 | ||
Hereditary fructose intolerance | Q70268377 | ||
[Anomaly of hepatic aldolase in intolerance to fructose.] | Q79408429 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 835-840 | |
P577 | publication date | 1993-04-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene | |
P478 | volume | 52 |
Q28638020 | Hereditary fructose intolerance |
Q41477444 | Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. |
Q43834234 | Mutation analysis in Turkish patients with hereditary fructose intolerance |
Q42663235 | Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population |
Q44363157 | Simple method for detection of mutations causing hereditary fructose intolerance |