| 000 | 01363 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250513185154.0 | ||
| 264 | 0 | _c19990908 | |
| 008 | 199909s 0 0 eng d | ||
| 022 | _a0387-7604 | ||
| 024 | 7 |
_a10.1016/s0387-7604(99)00004-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMizugishi, K | |
| 245 | 0 | 0 |
_aMissense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I. _h[electronic resource] |
| 260 |
_bBrain & development _cJun 1999 |
||
| 300 |
_a223-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xblood |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIsoelectric Focusing |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aTransferrin _xanalogs & derivatives |
| 700 | 1 | _aYamanaka, K | |
| 700 | 1 | _aKuwajima, K | |
| 700 | 1 | _aYuasa, I | |
| 700 | 1 | _aShigemoto, K | |
| 700 | 1 | _aKondo, I | |
| 773 | 0 |
_tBrain & development _gvol. 21 _gno. 4 _gp. 223-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/s0387-7604(99)00004-2 _zAvailable from publisher's website |
| 999 |
_c10351069 _d10351069 |
||