Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1979-9-17
pubmed:abstractText
After testing a population sample of 185 hospitalized Italian children for the plasma alpha-L-fucosidase deficiency and establishing an approximate threshold value between heterozygotes and wild-type homozygotes, we analyzed by two statistical methods the distribution of the two genotypes. The results obtained by probit analysis agree with threshold and average values expected on the basis of the Hardy-Weinberg equilibrium. In addition, the level of alpha-fucosidase in leukocytes of 12 individuals with deficiency of alpha-fucosidase in plasma was found to be significantly lower than that of 61 controls (P less than 0.005). These results indicate that the mutation(s) causing a deficiency of alpha-fucosidase in plasma is (are) also expressed in leukocytes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:day
17
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
23-30
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes.
pubmed:publicationType
Journal Article