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A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

作者信息

Moskowitz S M, Tieu P T, Neufeld E F

机构信息

Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.

出版信息

Hum Mutat. 1993;2(1):71-3. doi: 10.1002/humu.1380020113.

DOI:10.1002/humu.1380020113
PMID:8477267
Abstract
摘要

相似文献

1
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).
Hum Mutat. 1993;2(1):71-3. doi: 10.1002/humu.1380020113.
2
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
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Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).四种导致轻度或中度α-L-艾杜糖醛酸酶缺乏症（MPS IS和MPS IH/S）的新突变。
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Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.I型黏多糖贮积症的分子遗传学：诊断、临床及生物学意义
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Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.在具有提前终止等位基因的Hurler成纤维细胞中，编码α-L-艾杜糖醛酸酶的mRNA发生降解的证据。
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Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.接受酶替代疗法的黏多糖贮积症 I 型患者中存在的 α-L-艾杜糖醛酸酶突变的鉴定及分子特征分析
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Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
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[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].[一名I型黏多糖贮积症患者中α-L-艾杜糖醛酸酶基因的新型突变]
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