| 000 | 01398 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515170221.0 | ||
| 264 | 0 | _c20090618 | |
| 008 | 200906s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32795 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aStevenson, Roger E | |
| 245 | 0 | 0 |
_aArena syndrome is caused by a missense mutation in PLP1. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2009 |
||
| 300 |
_a1081 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aBasal Ganglia _xmetabolism |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIron _xmetabolism |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aMyelin Proteolipid Protein _xgenetics |
| 650 | 0 | 4 |
_aParaplegia _xgenetics |
| 650 | 0 | 4 |
_aPelizaeus-Merzbacher Disease _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aThalamus _xmetabolism |
| 700 | 1 | _aTarpey, Patrick | |
| 700 | 1 | _aMay, Melanie M | |
| 700 | 1 | _aStratton, Michael R | |
| 700 | 1 | _aSchwartz, Charles E | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 149A _gno. 5 _gp. 1081 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32795 _zAvailable from publisher's website |
| 999 |
_c18827155 _d18827155 |
||