000 01136 a2200349 4500
005 20250513061649.0
264 0 _c19940331
008 199403s 0 0 eng d
022 _a1059-7794
024 7 _a10.1002/humu.1380020603
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHopwood, J J
245 0 0 _aMolecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
_h[electronic resource]
260 _bHuman mutation
_c1993
300 _a435-42 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
650 0 4 _aGene Deletion
650 0 4 _aHumans
650 0 4 _aIduronate Sulfatase
_xgenetics
650 0 4 _aMucopolysaccharidosis II
_xdiagnosis
650 0 4 _aMutation
650 0 4 _aPoint Mutation
700 1 _aBunge, S
700 1 _aMorris, C P
700 1 _aWilson, P J
700 1 _aSteglich, C
700 1 _aBeck, M
700 1 _aSchwinger, E
700 1 _aGal, A
773 0 _tHuman mutation
_gvol. 2
_gno. 6
_gp. 435-42
856 4 0 _uhttps://doi.org/10.1002/humu.1380020603
_zAvailable from publisher's website
999 _c8110735
_d8110735