Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06012 Glycosaminoglycan degradation |
Disease |
H00129 | Mucopolysaccharidosis type II |
|
Drug target |
|
Reference |
|
Authors |
Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP |
Title |
Detection of point mutations and a gross deletion in six Hunter syndrome patients. |
Journal |
|
Reference |
|
Authors |
Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T |
Title |
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. |
Journal |
|
LinkDB |
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