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Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

作者信息

Scott H S, Nelson P V, Litjens T, Hopwood J J, Morris C P

机构信息

Department of Chemical Pathology, Adelaide Children's Hospital, SA, Australia.

出版信息

Hum Mol Genet. 1993 Sep;2(9):1471-3. doi: 10.1093/hmg/2.9.1471.

DOI:10.1093/hmg/2.9.1471
PMID:8242073
Abstract
摘要

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Hum Mol Genet. 1993 Sep;2(9):1471-3. doi: 10.1093/hmg/2.9.1471.
2
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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.α-L-艾杜糖醛酸酶突变（Q70X和P533R）与严重的Hurler表型相关。
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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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Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.黏多糖贮积症 I 型患者中 α-L-艾杜糖醛酸酶基因 5 种新突变的报告及韩国突变与日本和中国突变的比较。
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Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.导致Hurler综合征和Scheie综合征的α-L-艾杜糖醛酸酶基因（IDUA）突变的鉴定。
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J Med Genet. 1997 Nov;34(11):939-41. doi: 10.1136/jmg.34.11.939.