Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type II from a chinese family

2005 ◽  
Vol 50 (21) ◽  
pp. 2534-2536 ◽  
Author(s):  
Yibin Guo ◽  
Jingxin Pan ◽  
Chuanshu Du
Keyword(s):  
Chinese Family ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
New Mutation

A 3′ splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II

Gene ◽  
2013 ◽  
Vol 528 (2) ◽  
pp. 236-240 ◽  
Author(s):  
Ping Jin ◽  
Jing-Wen Hao ◽  
Ke Chen ◽  
Chang-sheng Dong ◽  
You-Bo Yang ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Site Mutation

A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II

2012 ◽  
Vol 8 (3) ◽  
pp. 281-283
Author(s):  
Xiao-Yan Li ◽  
Xiu-Yu Shi ◽  
Jun Ju ◽  
Xiao-Hong Hu ◽  
Xiao-Fan Yang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii

HMI-203: Gene therapy developmental candidate for mucopolysaccharidosis type II (MPS II), or Hunter syndrome

2021 ◽  
Vol 132 ◽  
pp. S147
Author(s):  
Kruti Patel ◽  
Laura Smith ◽  
Tania Seabrook ◽  
Alec Tzianabos ◽  
Lindsay Schulman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii
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