一名患有IVA型黏多糖贮积症的日本患者中GALNS基因第1内含子的一种新型剪接位点突变。 - Suppr

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超能文献

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

作者信息

Tomatsu S, Fukuda S, Ogawa T, Kato Z, Isogai K, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T

机构信息

Department of Pediatrics, Gifu University School of Medicine, Japan.

出版信息

Hum Mol Genet. 1994 Aug;3(8):1427-8. doi: 10.1093/hmg/3.8.1427.

DOI:10.1093/hmg/3.8.1427

PMID:7987329

Abstract

摘要

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Diagn Pathol. 2011 Jan 20;6:11. doi: 10.1186/1746-1596-6-11.

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.黏多糖贮积症IVA型：芬兰表型较轻患者中常见突变的特征分析

Hum Genet. 2003 Jul;113(2):162-9. doi: 10.1007/s00439-003-0959-8. Epub 2003 Apr 30.

Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.IVA型黏多糖贮积症：白种人和日本人群中多态性DNA单倍型的比较研究

J Inherit Metab Dis. 1996;19(3):301-8. doi: 10.1007/BF01799258.

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Am J Hum Genet. 1996 May;58(5):950-62.

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