Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference10 articles.
1. Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties
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4. New distal marker closely linked to the fragile X locus
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus;JIMD Reports;2014
2. Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation;BMC Medical Genetics;2013-05-01
3. Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment;Current Pharmaceutical Biotechnology;2011-06-01
4. Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report;Journal of Medical Case Reports;2010-05-26
5. Letter to the Editor: Mapping of the loci for mental retardation syndromes in the distal Xq;American Journal of Medical Genetics;1996-07-12
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