Linked Life Data

4061491

Source:http://linkedlifedata.com/resource/pubmed/id/4061491

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1985-12-13
pubmed:abstractText
We have investigated the family of a 15-year-old proposita with a homozygous, receptor-defective, familial hypercholesterolemia and found that her consanguineous, obligate heterozygous parents have "normal" cholesterol levels and a family history of unusual longevity. Documentation of paternity and the presence of the heterozygous biochemical disorder in the parents is firm. The implications are that, at least in this family, relatively low serum cholesterol and high levels of HDL cholesterol are protective against the risks associated with having a mutant allele for heterozygous familial hypercholesterolemia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
585-91
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes.
pubmed:publicationType
Journal Article, Case Reports