Linked Life Data

18436078

Source:http://linkedlifedata.com/resource/pubmed/id/18436078

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-4-25
pubmed:abstractText
We describe a novel mutational study in 2 African American siblings with autosomal recessive Alport syndrome. Both siblings were compound heterozygotes for 2 abnormal DNA sequences in exon 49 of the COL4A3 gene, p.Arg1496X (CGA-->TGA) and p.Arg1516X (CGA-->TGA). These are nonsense mutations in the noncollagenous domain resulting in premature termination codons and have not been previously reported. In an African American population in which autosomal recessive Alport syndrome is rarely seen, complete sequencing of the COL4A3 and COL4A4 genes may be necessary to identify the underlying mutation and confirm the diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1523-6838
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e25-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
pubmed:affiliation
Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
pubmed:publicationType
Journal Article, Case Reports