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