TY  - GEN
AU  - McNeil,D E
AU  - Linehan,W M
AU  - Glenn,G M
TI  - Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
SN  - 1468-6244
PY  - 2002///0905
KW  - Adult
KW  - Alleles
KW  - Ataxins
KW  - Central Nervous System Neoplasms
KW  - blood supply
KW  - Comorbidity
KW  - Diagnosis, Differential
KW  - Female
KW  - Humans
KW  - Ligases
KW  - genetics
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Olivopontocerebellar Atrophies
KW  - diagnosis
KW  - Pedigree
KW  - Proteins
KW  - Spinocerebellar Degenerations
KW  - Trinucleotide Repeat Expansion
KW  - Tumor Suppressor Proteins
KW  - Ubiquitin-Protein Ligases
KW  - Vascular Neoplasms
KW  - Von Hippel-Lindau Tumor Suppressor Protein
KW  - von Hippel-Lindau Disease
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1136/jmg.39.7.e37
ER  -