| 000 | 01890 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250516124555.0 | ||
| 264 | 0 | _c20130903 | |
| 008 | 201309s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/dds514 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDieterich, Klaus | |
| 245 | 0 | 0 |
_aThe neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cApr 2013 |
||
| 300 |
_a1483-92 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aArthrogryposis _xembryology |
| 650 | 0 | 4 |
_aCentral Nervous System _xpathology |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aEmbryonic Development _xgenetics |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMetalloendopeptidases _xgenetics |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 |
_aMotor Neurons _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aQuijano-Roy, Susana | |
| 700 | 1 | _aMonnier, Nicole | |
| 700 | 1 | _aZhou, Jie | |
| 700 | 1 | _aFauré, Julien | |
| 700 | 1 | _aSmirnow, Daniela Avila | |
| 700 | 1 | _aCarlier, Robert | |
| 700 | 1 | _aLaroche, Cécile | |
| 700 | 1 | _aMarcorelles, Pascale | |
| 700 | 1 | _aMercier, Sandra | |
| 700 | 1 | _aMégarbané, André | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aRomero, Norma | |
| 700 | 1 | _aSternberg, Damien | |
| 700 | 1 | _aMarty, Isabelle | |
| 700 | 1 | _aEstournet, Brigitte | |
| 700 | 1 | _aJouk, Pierre-Simon | |
| 700 | 1 | _aMelki, Judith | |
| 700 | 1 | _aLunardi, Joël | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 22 _gno. 8 _gp. 1483-92 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/dds514 _zAvailable from publisher's website |
| 999 |
_c22342427 _d22342427 |
||