5 nonsense mutations
This paper was listed on the ClinVar entry for this variant; however it was only included to show that loss-of-function variants in IDUA are known to be pathogenic
2 Matching Annotations
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene
annotating here sice the article is only available as a PDF.
Case#: Clarke Patient 3
DiseaseAssertion: MPS I, severe
FamilyInfo: father and mother were het carriers
CasePresentingHPOs:
CaseHPOFreeText: severe clinical phenotype with presentation in the first year of life and currently at age two has received bone marrow transplantation
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: SSCP, restriction enzyme digestion
PreviouslyPublished: n/a
Variant: c.820G>T (p.Glu274Ter); Q70X phase confirmed
CAID: CA355962341
SupplementalData: n/a
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