| 000 | 01694 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517155747.0 | ||
| 264 | 0 | _c20180510 | |
| 008 | 201805s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23268 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZhao, Jin James | |
| 245 | 0 | 0 |
_aReduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. _h[electronic resource] |
| 260 |
_bHuman mutation _c10 2017 |
||
| 300 |
_a1394-1401 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCerebellar Ataxia _xgenetics |
| 650 | 0 | 4 |
_aCerebellum _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFlow Cytometry |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 |
_aGlycosylphosphatidylinositols _xchemistry |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aNervous System Malformations _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPhosphotransferases (Alcohol Group Acceptor) _xchemistry |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aHalvardson, Jonatan | |
| 700 | 1 | _aKnaus, Alexej | |
| 700 | 1 | _aGeorgii-Hemming, Patrik | |
| 700 | 1 | _aBaeck, Peter | |
| 700 | 1 | _aKrawitz, Peter M | |
| 700 | 1 | _aThuresson, Ann-Charlotte | |
| 700 | 1 | _aFeuk, Lars | |
| 773 | 0 |
_tHuman mutation _gvol. 38 _gno. 10 _gp. 1394-1401 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23268 _zAvailable from publisher's website |
| 999 |
_c27245799 _d27245799 |
||