| 000 | 01514 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515123555.0 | ||
| 264 | 0 | _c20080919 | |
| 008 | 200809s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2007.056713 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _ade Alencastro, G | |
| 245 | 0 | 0 |
_aNew SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cAug 2008 |
||
| 300 |
_a539-43 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSpermine Synthase _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMcCloskey, D E | |
| 700 | 1 | _aKliemann, S E | |
| 700 | 1 | _aMaranduba, C M C | |
| 700 | 1 | _aPegg, A E | |
| 700 | 1 | _aWang, X | |
| 700 | 1 | _aBertola, D R | |
| 700 | 1 | _aSchwartz, C E | |
| 700 | 1 | _aPassos-Bueno, M R | |
| 700 | 1 | _aSertié, A L | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 45 _gno. 8 _gp. 539-43 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2007.056713 _zAvailable from publisher's website |
| 999 |
_c18036006 _d18036006 |
||