| 000 | 01566 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515000848.0 | ||
| 264 | 0 | _c20060727 | |
| 008 | 200607s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2005.033530 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVu, D | |
| 245 | 0 | 0 |
_aHypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cSep 2005 |
||
| 300 |
_ae57 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAfibrinogenemia _xblood |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 |
_aChlorocebus aethiops _xmetabolism |
| 650 | 0 | 4 | _aCrystallography, X-Ray |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibrinogen _xchemistry |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSlovakia |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _ade Moerloose, P | |
| 700 | 1 | _aBatorova, A | |
| 700 | 1 | _aLazur, J | |
| 700 | 1 | _aPalumbo, L | |
| 700 | 1 | _aNeerman-Arbez, M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 42 _gno. 9 _gp. e57 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2005.033530 _zAvailable from publisher's website |
| 999 |
_c15776621 _d15776621 |
||