p.T364MACG-ATGExon 8Hurler/ ScheieMissense mutationLee-Chen et al. 1997
The paper mentions this variant, but only in review of the cases that exist in the literature for Chinese MPS1 patients. Will annotate the case in the original publication.
8 Matching Annotations
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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p.T364MACG-ATGExon 8Hurler/ ScheieMissense mutationLee-Chen et al. 1997
The paper mentions this variant, but only in review of the cases that exist in the literature for Chinese MPS1 patients. Will annotate the case in the original publication.
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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KH8 Hurler 20 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH8 was 20yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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KH9 Hurler 11 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH9 was 11yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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KH4 Hurler 6 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH4 was 6yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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KH8 Hurler 20 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH8 was 20yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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KH9 Hurler 11 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH9 was 11yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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KH4 Hurler 6 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH4 was 6yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
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