| 000 | 01182 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250513032042.0 | ||
| 264 | 0 | _c19951121 | |
| 008 | 199511s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/humu.1380060111 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTieu, P T | |
| 245 | 0 | 0 |
_aFour novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). _h[electronic resource] |
| 260 |
_bHuman mutation _c1995 |
||
| 300 |
_a55-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIduronidase _xdeficiency |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMucopolysaccharidosis I _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 700 | 1 | _aBach, G | |
| 700 | 1 | _aMatynia, A | |
| 700 | 1 | _aHwang, M | |
| 700 | 1 | _aNeufeld, E F | |
| 773 | 0 |
_tHuman mutation _gvol. 6 _gno. 1 _gp. 55-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.1380060111 _zAvailable from publisher's website |
| 999 |
_c7549688 _d7549688 |
||