| 000 | 01312 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250516211347.0 | ||
| 264 | 0 | _c20150929 | |
| 008 | 201509s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2014.76 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLi, Dong | |
| 245 | 0 | 0 |
_aExome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cFeb 2015 |
||
| 300 |
_a264-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMatrix Metalloproteinase 13 _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aWeber, David R | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 700 | 1 | _aHakonarson, Hakon | |
| 700 | 1 | _aLevine, Michael A | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 2 _gp. 264-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2014.76 _zAvailable from publisher's website |
| 999 |
_c23781939 _d23781939 |
||