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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2011-7-14
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pubmed:abstractText |
Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme ?-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.Aim of study: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.Patients and methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-10738517,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-114339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-11735025,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-12203999,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-1301196,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-1301941,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-14659747,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-1505961,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-15862278,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-16435195,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-17728118,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-1946389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-19839758,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-20209839,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-21251309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-21521498,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-7550242,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-7951228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-8242073,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-8680403,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-9427149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21639919-9439652
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1746-1596
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pubmed:author |
pubmed-author:Ben DridiMarie FrançoiseMF,
pubmed-author:ChahedHendaH,
pubmed-author:ChkiouaLatifaL,
pubmed-author:FerchichiSalimaS,
pubmed-author:FroissartRoselineR,
pubmed-author:KhedhiriSouhirS,
pubmed-author:LaradiSandrineS,
pubmed-author:MiledAbdelhediA,
pubmed-author:TchengRémyR,
pubmed-author:TurkiaHadhami BenHB,
pubmed-author:Vianey-SabanChristineC
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pubmed:issnType |
Electronic
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
47
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pubmed:meshHeading |
pubmed-meshheading:21639919-Child,
pubmed-meshheading:21639919-Child, Preschool,
pubmed-meshheading:21639919-DNA Mutational Analysis,
pubmed-meshheading:21639919-Family Health,
pubmed-meshheading:21639919-Female,
pubmed-meshheading:21639919-Genotype,
pubmed-meshheading:21639919-Humans,
pubmed-meshheading:21639919-Iduronidase,
pubmed-meshheading:21639919-Male,
pubmed-meshheading:21639919-Mucopolysaccharidosis I,
pubmed-meshheading:21639919-Mutation, Missense,
pubmed-meshheading:21639919-Tunisia
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pubmed:year |
2011
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pubmed:articleTitle |
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
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pubmed:affiliation |
Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse - Tunisia. chkioualatifa2002@yahoo.fr
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pubmed:publicationType |
Journal Article
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