| 000 | 01796 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515065035.0 | ||
| 264 | 0 | _c20071206 | |
| 008 | 200712s 0 0 eng d | ||
| 022 | _a0022-510X | ||
| 024 | 7 |
_a10.1016/j.jns.2007.03.021 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMotozaki, Yuko | |
| 245 | 0 | 0 |
_aPhenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study. _h[electronic resource] |
| 260 |
_bJournal of the neurological sciences _cSep 2007 |
||
| 300 |
_a236-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmyloid Neuropathies, Familial _xcomplications |
| 650 | 0 | 4 |
_aBrain _xmetabolism |
| 650 | 0 | 4 |
_aCarpal Tunnel Syndrome _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEye Diseases, Hereditary _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMeninges _xmetabolism |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMyocardium _xmetabolism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeripheral Nerves _xmetabolism |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPrealbumin _xgenetics |
| 650 | 0 | 4 |
_aViscera _xmetabolism |
| 650 | 0 | 4 |
_aVitreous Body _xpathology |
| 700 | 1 | _aSugiyama, Yu | |
| 700 | 1 | _aIshida, Chiho | |
| 700 | 1 | _aKomai, Kiyonobu | |
| 700 | 1 | _aMatsubara, Shiro | |
| 700 | 1 | _aYamada, Masahito | |
| 773 | 0 |
_tJournal of the neurological sciences _gvol. 260 _gno. 1-2 _gp. 236-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jns.2007.03.021 _zAvailable from publisher's website |
| 999 |
_c17014558 _d17014558 |
||