Literature summary for 3.1.6.13 extracted from

Kim, C.H.; Hwang, H.Z.; Song, S.M.; Paik, K.H.; Kwon, E.K.; Moon, K.B.; Yoon, J.H.; Han, C.K.; Jin, D.K.
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations (2003), Hum. Mutat., 21, 449-450.

Search for more literature for 3.1.6.13

Application

Application	Comment	Organism
medicine	the inherited deficiency results in mucopolysaccharidosis type II, the Hunter syndrome	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	in 25 Hunter syndrome patients 20 mutations of the gene are identified of which 13 mutations are novel	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)