| 000 | 01392 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517143954.0 | ||
| 264 | 0 | _c20180806 | |
| 008 | 201808s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13018 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aReinstein, E | |
| 245 | 0 | 0 |
_aMutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. _h[electronic resource] |
| 260 |
_bClinical genetics _cJan 2018 |
||
| 300 |
_a160-163 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aArabs |
| 650 | 0 | 4 |
_aArthrogryposis _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIsrael |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aDrasinover, V | |
| 700 | 1 | _aLotan, R | |
| 700 | 1 | _aGal-Tanamy, M | |
| 700 | 1 | _aBolocan Nachman, I | |
| 700 | 1 | _aEyal, E | |
| 700 | 1 | _aJaber, L | |
| 700 | 1 | _aMagal, N | |
| 700 | 1 | _aShohat, M | |
| 773 | 0 |
_tClinical genetics _gvol. 93 _gno. 1 _gp. 160-163 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13018 _zAvailable from publisher's website |
| 999 |
_c26991161 _d26991161 |
||