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Details on Person Jassal, B, 2012-04-27

Class:IdInstanceEdit:2210371
_displayNameJassal, B, 2012-04-27
_timestamp2012-04-27 16:04:30
author[Person:73447] Jassal, Bijay
dateTime2012-04-27 20:03:50
(created)[Person:2210372] Cudry, S
[Summation:2210373] Mucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:30990...
[Person:2210374] Whitley, CB
[Person:2210375] Froissart, R
[Person:2210376] Bozon, D
[Person:2210377] Bonnet, V
[Person:2210379] Birot, AM
[Person:2210380] Millat, G
[LiteratureReference:2210382] Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression
[LiteratureReference:2210383] Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
List all 14 refering instances
(modified)[EntityWithAccessionedSequence:2210360] IDS (34-455) R443* [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2210361] IDS (456-550) R468G [lysosomal lumen] [Homo sapiens]
[DefinedSet:2210362] IDS mutants [lysosomal lumen] [Homo sapiens]
[ReplacedResidue:2210363] L-arginine 468 replaced with L-leucine
[EntityWithAccessionedSequence:2210364] IDS (456-550) R468L [lysosomal lumen] [Homo sapiens]
[ReplacedResidue:2210365] L-arginine 468 replaced with glycine
[NonsenseMutation:2210367] Nonsense mutation at L-arginine 443
[EntityWithAccessionedSequence:2210368] IDS (456-550) R468W [lysosomal lumen] [Homo sapiens]
[ReplacedResidue:2210369] L-arginine 468 replaced with L-tryptophan
[Disease:2210370] mucopolysaccharidosis II
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No pathways have been reviewed or authored by Jassal, B, 2012-04-27 (2210371)
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