| 000 | 00967 a2200277 4500 | ||
|---|---|---|---|
| 005 | 20250516222942.0 | ||
| 008 | ####s 0 0 eng d | ||
| 022 | _a2214-4269 | ||
| 024 | 7 |
_a10.1016/j.ymgmr.2014.04.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMurali, Chaya | |
| 245 | 0 | 0 |
_aDiagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism reports _c2014 |
||
| 300 |
_a213-219 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 700 | 1 | _aLu, James T | |
| 700 | 1 | _aJain, Mahim | |
| 700 | 1 | _aLiu, David S | |
| 700 | 1 | _aLachman, Ralph | |
| 700 | 1 | _aGibbs, Richard A | |
| 700 | 1 | _aLee, Brendan H | |
| 700 | 1 | _aCohn, Daniel | |
| 700 | 1 | _aCampeau, Philippe M | |
| 773 | 0 |
_tMolecular genetics and metabolism reports _gvol. 1 _gp. 213-219 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgmr.2014.04.004 _zAvailable from publisher's website |
| 999 |
_c24003538 _d24003538 |
||