Linked Life Data

4073836

Source:http://linkedlifedata.com/resource/pubmed/id/4073836

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
Pt 3
pubmed:dateCreated
1986-1-9
pubmed:abstractText
Only one of the two main L-xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). The isozyme which is affected by the pentosuria mutation occurs as mitochondrial and cytosolic forms in normal individuals, whereas the other isozyme (which is not affected by the mutation) occurs only in the cytosol. A new assay of red cell L-xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at both family and population levels. Reinvestigation of a Lebanese family in which pentosuria has previously been thought to be dominantly inherited reveals that the condition is recessively inherited in this family as well. A minimum estimate of the frequency of the pentosuria allele in an Ashkenazi-Jewish population, calculated from the apparent heterozygote frequency, is 0.0127. The likelihood of the Ashkenazi and Lebanese pentosuria alleles being the same is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0003-4800
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
227-35
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Human L-xylulose reductase variation: family and population studies.
pubmed:publicationType
Journal Article