000 | 01195 a2200349 4500 | ||
---|---|---|---|
005 | 20250515201007.0 | ||
264 | 0 | _c20100416 | |
008 | 201004s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/j.1399-0004.2009.01331.x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBadura-Stronka, M | |
245 | 0 | 0 |
_aA novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. _h[electronic resource] |
260 |
_bClinical genetics _cFeb 2010 |
||
300 |
_a141-4 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aCodon, Nonsense |
650 | 0 | 4 |
_aCullin Proteins _xchemistry |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
650 | 0 | 4 | _aPedigree |
700 | 1 | _aJamsheer, A | |
700 | 1 | _aMaterna-Kiryluk, A | |
700 | 1 | _aSowińska, A | |
700 | 1 | _aKiryluk, K | |
700 | 1 | _aBudny, B | |
700 | 1 | _aLatos-Bieleńska, A | |
773 | 0 |
_tClinical genetics _gvol. 77 _gno. 2 _gp. 141-4 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2009.01331.x _zAvailable from publisher's website |
999 |
_c19384626 _d19384626 |