Linked Life Data

2561653

Source:http://linkedlifedata.com/resource/pubmed/id/2561653

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11-12
pubmed:dateCreated
1990-8-6
pubmed:abstractText
We report a rare heterozygous status for Fabry's gene with severe kidney involvement and normal alpha-galactosidase A activity, together with the intrafamilial variations in the clinical expression of the disease. The random X inactivation hypothesis seems to explain such a variable expression of the alpha-galactosidase gene in our cases.
pubmed:language
ita
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0026-4741
pubmed:author
pubmed:issnType
Print
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
505-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Fabry's disease: kidney insufficiency in heterozygous patient].
pubmed:publicationType
Journal Article, English Abstract, Case Reports