Linked Life Data

19282856

Source:http://linkedlifedata.com/resource/pubmed/id/19282856

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2009-3-13
pubmed:abstractText
In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation. Learning to tell apart the specific allele combinations of podocin mutations will be important for prognosis, genetic counseling in living related kidney donation, accurate etiologic classification within treatment studies, and the understanding of podocin function.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1523-1755
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
75
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
669-71
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life.
pubmed:affiliation
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA. fhilde@umich.edu
pubmed:publicationType
Journal Article, Comment, Review, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural