000 | 01569 a2200457 4500 | ||
---|---|---|---|
005 | 20250515110548.0 | ||
264 | 0 | _c20080506 | |
008 | 200805s 0 0 eng d | ||
022 | _a1545-5017 | ||
024 | 7 |
_a10.1002/pbc.21514 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aJackson, Carl-Christian | |
245 | 0 | 0 |
_aCafé-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. _h[electronic resource] |
260 |
_bPediatric blood & cancer _cJun 2008 |
||
300 |
_a1268-70 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 |
_aCafe-au-Lait Spots _xcomplications |
650 | 0 | 4 |
_aColorectal Neoplasms, Hereditary Nonpolyposis _xcomplications |
650 | 0 | 4 | _aDNA Mismatch Repair |
650 | 0 | 4 |
_aDNA Repair Enzymes _xgenetics |
650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
650 | 0 | 4 | _aGerm-Line Mutation |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMismatch Repair Endonuclease PMS2 |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aPedigree |
700 | 1 | _aHolter, Spring | |
700 | 1 | _aPollett, Aaron | |
700 | 1 | _aClendenning, Mark | |
700 | 1 | _aChou, Shirley | |
700 | 1 | _aSenter, Leigha | |
700 | 1 | _aRamphal, Raveena | |
700 | 1 | _aGallinger, Steven | |
700 | 1 | _aBoycott, Kym | |
773 | 0 |
_tPediatric blood & cancer _gvol. 50 _gno. 6 _gp. 1268-70 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/pbc.21514 _zAvailable from publisher's website |
999 |
_c17778695 _d17778695 |