Linked Life Data

21252495

Source:http://linkedlifedata.com/resource/pubmed/id/21252495

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-5-17
pubmed:abstractText
Congenital sideroblastic anemias (SA) are characterized by the presence of ringed sideroblasts in the bone marrow. The most common form is X-linked SA, which results from mutations in erythroid-specific ?-aminolevulinate synthase (ALAS2), the first enzyme in heme biosynthesis. In addition, autosomal recessive mutations in the erythroid-specific mitochondrial transporter SLC25A38 and glutaredoxin 5 (GLRX5) have recently been identified in SA patients with isolated erythroid phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1421-9662
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
125
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
193-7
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
pubmed:affiliation
Department of Biology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't