Linked Life Data

12818523

Source:http://linkedlifedata.com/resource/pubmed/id/12818523

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-6-23
pubmed:abstractText
Mucopolysaccharidosis I (MPS-I) is an autosomal recessive disorder, which is caused by mutations in the IDUA gene. It induces the deficiency of glycosidase alpha-L-duronidase. The enzyme that is required for the degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms (severe mental retardation, skeletal deformations, hepatosplenomegaly, corneal clouding and mild visceral organ involvement). In the present paper, we report the frequencies of haplotypes of the Eco47III-NspI sites, in the IDUA gene, in Mexican healthy and in MPS-I individuals.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0003-3995
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7-10
pubmed:dateRevised
2008-8-23
pubmed:meshHeading
pubmed:articleTitle
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population.
pubmed:affiliation
Divisione de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Guadalajara, Jalisco, Mexico. marthaga@foreigner.class.udg.mx <marthaga@foreigner.class.udg.mx>
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't