| 000 | 01817 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250517172219.0 | ||
| 264 | 0 | _c20190911 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13124 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchormair, B | |
| 245 | 0 | 0 |
_aDiagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. _h[electronic resource] |
| 260 |
_bClinical genetics _c03 2018 |
||
| 300 |
_a603-612 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aParkinson Disease _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aRisk Factors |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aKemlink, D | |
| 700 | 1 | _aMollenhauer, B | |
| 700 | 1 | _aFiala, O | |
| 700 | 1 | _aMachetanz, G | |
| 700 | 1 | _aRoth, J | |
| 700 | 1 | _aBerutti, R | |
| 700 | 1 | _aStrom, T M | |
| 700 | 1 | _aHaslinger, B | |
| 700 | 1 | _aTrenkwalder, C | |
| 700 | 1 | _aZahorakova, D | |
| 700 | 1 | _aMartasek, P | |
| 700 | 1 | _aRuzicka, E | |
| 700 | 1 | _aWinkelmann, J | |
| 773 | 0 |
_tClinical genetics _gvol. 93 _gno. 3 _gp. 603-612 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13124 _zAvailable from publisher's website |
| 999 |
_c27519043 _d27519043 |
||