Linked Life Data

6643650

Source:http://linkedlifedata.com/resource/pubmed/id/6643650

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1984-1-27
pubmed:abstractText
This article presents detailed clinical and laboratory investigations of six hypophosphatasia kindreds. Serum alkaline phosphatase and urinary phosphoethanolamine comparisons between the affected population and a normal control population demonstrate these parameters routinely identify the heterozygous individual when age and sex variations are accounted for. Using clinical data from the kindred population and a detailed review of the literature, the type and frequency of clinical findings for both the homozygous and heterozygous genotype are enumerated. The clinical and biochemical phenotypes were subjected to segregation analysis. When the results of these analyses are viewed in light of their mathematical limitations and the genetic precepts of autosomal dominant and recessive inheritance, hypophosphatasia is best described as an autosomal dominant disorder with 85% penetrance and homozygous lethality.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0270-4145
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
213-34
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.