000 | 01325 a2200397 4500 | ||
---|---|---|---|
005 | 20250515121402.0 | ||
264 | 0 | _c20080926 | |
008 | 200809s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/j.1399-0004.2008.01019.x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBoztug, K | |
245 | 0 | 0 |
_aMultiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. _h[electronic resource] |
260 |
_bClinical genetics _cJul 2008 |
||
300 |
_a68-74 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aCodon, Nonsense |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMosaicism |
650 | 0 | 4 | _aSiblings |
650 | 0 | 4 |
_aWiskott-Aldrich Syndrome _xgenetics |
650 | 0 | 4 |
_aWiskott-Aldrich Syndrome Protein _xgenetics |
700 | 1 | _aGermeshausen, M | |
700 | 1 | _aAvedillo Díez, I | |
700 | 1 | _aGulacsy, V | |
700 | 1 | _aDiestelhorst, J | |
700 | 1 | _aBallmaier, M | |
700 | 1 | _aWelte, K | |
700 | 1 | _aMaródi, L | |
700 | 1 | _aChernyshova, Li | |
700 | 1 | _aKlein, C | |
773 | 0 |
_tClinical genetics _gvol. 74 _gno. 1 _gp. 68-74 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2008.01019.x _zAvailable from publisher's website |
999 |
_c17974228 _d17974228 |