Simple method for detection of mutations causing hereditary fructose intolerance

scientific article published in November 2002

Simple method for detection of mutations causing hereditary fructose intolerance is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1048754545
P356DOI10.1023/A:1022043307569
P698PubMed publication ID12638940

P2093author name stringC Hannoun
M Lindh
C Kullberg-Lindh
P2860cites workScreening for hereditary fructose intolerance mutations by reverse dot-blotQ28137618
Molecular analysis of aldolase B genes in hereditary fructose intoleranceQ28254811
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B geneQ28271637
Hereditary fructose intoleranceQ28638020
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B geneQ35194185
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesQ40872470
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British populationQ42663235
Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.Q42789844
Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.Q45358882
Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North AmericansQ68044472
The diagnosis of hereditary fructose intoleranceQ72906239
Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutationsQ74557968
P433issue7
P304page(s)571-575
P577publication date2002-11-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleSimple method for detection of mutations causing hereditary fructose intolerance
P478volume25

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cites work (P2860)
Q42675670Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion
Q41885794Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population
Q28273394The biochemical basis of hereditary fructose intolerance

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