| 000 | 01225 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517063831.0 | ||
| 264 | 0 | _c20151120 | |
| 008 | 201511s 0 0 eng d | ||
| 022 | _a2090-6544 | ||
| 024 | 7 |
_a10.1155/2015/454526 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJacobsen, Jessie C | |
| 245 | 0 | 0 |
_aWhole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. _h[electronic resource] |
| 260 |
_bCase reports in genetics _c2015 |
||
| 300 |
_a454526 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 700 | 1 | _aGlamuzina, Emma | |
| 700 | 1 | _aTaylor, Juliet | |
| 700 | 1 | _aSwan, Brendan | |
| 700 | 1 | _aHandisides, Shona | |
| 700 | 1 | _aWilson, Callum | |
| 700 | 1 | _aFietz, Michael | |
| 700 | 1 | _avan Dijk, Tessa | |
| 700 | 1 | _aAppelhof, Bart | |
| 700 | 1 | _aHill, Rosamund | |
| 700 | 1 | _aMarks, Rosemary | |
| 700 | 1 | _aLove, Donald R | |
| 700 | 1 | _aRobertson, Stephen P | |
| 700 | 1 | _aSnell, Russell G | |
| 700 | 1 | _aLehnert, Klaus | |
| 773 | 0 |
_tCase reports in genetics _gvol. 2015 _gp. 454526 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1155/2015/454526 _zAvailable from publisher's website |
| 999 |
_c25466453 _d25466453 |
||