| 000 | 01434 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514050315.0 | ||
| 264 | 0 | _c20021210 | |
| 008 | 200212s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s00439-002-0798-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSumi, Satoshi | |
| 245 | 0 | 0 |
_aGenetic basis of inosine triphosphate pyrophosphohydrolase deficiency. _h[electronic resource] |
| 260 |
_bHuman genetics _cOct 2002 |
||
| 300 |
_a360-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aDNA, Complementary |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 |
_aPyrophosphatases _xchemistry |
| 650 | 0 | 4 | _aInosine Triphosphatase |
| 700 | 1 | _aMarinaki, Anthony M | |
| 700 | 1 | _aArenas, Monica | |
| 700 | 1 | _aFairbanks, Lynette | |
| 700 | 1 | _aShobowale-Bakre, Monsor | |
| 700 | 1 | _aRees, David C | |
| 700 | 1 | _aThein, Swee Lay | |
| 700 | 1 | _aAnsari, Azhar | |
| 700 | 1 | _aSanderson, Jeremy | |
| 700 | 1 | _aDe Abreu, Ronney A | |
| 700 | 1 | _aSimmonds, H Anne | |
| 700 | 1 | _aDuley, John A | |
| 773 | 0 |
_tHuman genetics _gvol. 111 _gno. 4-5 _gp. 360-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-002-0798-z _zAvailable from publisher's website |
| 999 |
_c12194013 _d12194013 |
||