| 000 | 01225 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250514155608.0 | ||
| 264 | 0 | _c20040412 | |
| 008 | 200404s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9195 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWestphal, Vibeke | |
| 245 | 0 | 0 |
_aIdentification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. _h[electronic resource] |
| 260 |
_bHuman mutation _cNov 2003 |
||
| 300 |
_a420-1 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aApoptosis Regulatory Proteins |
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aPoint Mutation |
| 700 | 1 | _aXiao, Ming | |
| 700 | 1 | _aKwok, Pui-Yan | |
| 700 | 1 | _aFreeze, Hudson H | |
| 773 | 0 |
_tHuman mutation _gvol. 22 _gno. 5 _gp. 420-1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9195 _zAvailable from publisher's website |
| 999 |
_c14278271 _d14278271 |
||