| 000 | 01205 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250514085356.0 | ||
| 264 | 0 | _c20031121 | |
| 008 | 200311s 0 0 eng d | ||
| 022 | _a0387-7604 | ||
| 024 | 7 |
_a10.1016/s0387-7604(03)00063-9 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOno, Hiroaki | |
| 245 | 0 | 0 |
_aNovel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. _h[electronic resource] |
| 260 |
_bBrain & development _cOct 2003 |
||
| 300 |
_a525-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xgenetics |
| 700 | 1 | _aSakura, Nobuo | |
| 700 | 1 | _aYamashita, Katsuko | |
| 700 | 1 | _aYuasa, Isao | |
| 700 | 1 | _aOhno, Kousaku | |
| 773 | 0 |
_tBrain & development _gvol. 25 _gno. 7 _gp. 525-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/s0387-7604(03)00063-9 _zAvailable from publisher's website |
| 999 |
_c12896649 _d12896649 |
||