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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
1998-1-30
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pubmed:abstractText |
The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing). Patient W2 is homozygous for mutation T364M (C to T transition in codon 364). The mutation was paternally inherited. A de novo deletion or gene conversion event may have resulted in apparent homozygosity for T364M. Expression of Y343X and T364M showed trace amounts of alpha-L-iduronidase activity compared to that of normal cDNA upon transfection into COS-7 cells.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-114339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-1362562,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-1478658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-1505961,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-1551868,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-1946389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-2220820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-6380756,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-7698753,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-7951228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-8019572,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-8127052,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-8242073,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9391892-8680403
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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:month |
Nov
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
939-41
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9391892-Animals,
pubmed-meshheading:9391892-Asian Continental Ancestry Group,
pubmed-meshheading:9391892-COS Cells,
pubmed-meshheading:9391892-Child,
pubmed-meshheading:9391892-DNA Mutational Analysis,
pubmed-meshheading:9391892-Female,
pubmed-meshheading:9391892-Humans,
pubmed-meshheading:9391892-Iduronidase,
pubmed-meshheading:9391892-Male,
pubmed-meshheading:9391892-Mucopolysaccharidosis I,
pubmed-meshheading:9391892-Mutation,
pubmed-meshheading:9391892-Pedigree,
pubmed-meshheading:9391892-Syndrome
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pubmed:year |
1997
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pubmed:articleTitle |
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
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pubmed:affiliation |
Department of Biology, National Taiwan Normal University, Taipei, ROC.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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