| 000 | 01902 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250516224213.0 | ||
| 264 | 0 | _c20160202 | |
| 008 | 201602s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12467 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPineda, M | |
| 245 | 0 | 0 |
_aDetailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. _h[electronic resource] |
| 260 |
_bClinical genetics _cJun 2015 |
||
| 300 |
_a543-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xchemistry |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aBinding Sites |
| 650 | 0 | 4 | _aCodon |
| 650 | 0 | 4 |
_aColorectal Neoplasms, Hereditary Nonpolyposis _xdiagnosis |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutL Protein Homolog 1 |
| 650 | 0 | 4 |
_aNuclear Proteins _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aProtein Interaction Domains and Motifs |
| 700 | 1 | _aGonzález-Acosta, M | |
| 700 | 1 | _aThompson, B A | |
| 700 | 1 | _aSánchez, R | |
| 700 | 1 | _aGómez, C | |
| 700 | 1 | _aMartínez-López, J | |
| 700 | 1 | _aPerea, J | |
| 700 | 1 | _aCaldés, T | |
| 700 | 1 | _aRodríguez, Y | |
| 700 | 1 | _aLandolfi, S | |
| 700 | 1 | _aBalmaña, J | |
| 700 | 1 | _aLázaro, C | |
| 700 | 1 | _aRobles, L | |
| 700 | 1 | _aCapellá, G | |
| 700 | 1 | _aRueda, D | |
| 773 | 0 |
_tClinical genetics _gvol. 87 _gno. 6 _gp. 543-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12467 _zAvailable from publisher's website |
| 999 |
_c24041211 _d24041211 |
||