| 000 | 01741 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250514040056.0 | ||
| 264 | 0 | _c20020905 | |
| 008 | 200209s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.39.7.e37 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcNeil, D E | |
| 245 | 0 | 0 |
_aComorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJul 2002 |
||
| 300 |
_aE37 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAtaxins |
| 650 | 0 | 4 |
_aCentral Nervous System Neoplasms _xblood supply |
| 650 | 0 | 4 | _aComorbidity |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLigases _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aNerve Tissue Proteins |
| 650 | 0 | 4 |
_aOlivopontocerebellar Atrophies _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 |
_aSpinocerebellar Degenerations _xdiagnosis |
| 650 | 0 | 4 |
_aTrinucleotide Repeat Expansion _xgenetics |
| 650 | 0 | 4 | _aTumor Suppressor Proteins |
| 650 | 0 | 4 | _aUbiquitin-Protein Ligases |
| 650 | 0 | 4 |
_aVascular Neoplasms _xdiagnosis |
| 650 | 0 | 4 | _aVon Hippel-Lindau Tumor Suppressor Protein |
| 650 | 0 | 4 |
_avon Hippel-Lindau Disease _xdiagnosis |
| 700 | 1 | _aLinehan, W M | |
| 700 | 1 | _aGlenn, G M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 39 _gno. 7 _gp. E37 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.39.7.e37 _zAvailable from publisher's website |
| 999 |
_c12005671 _d12005671 |
||