Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration. [electronic resource]
Producer: 20020905Description: E37 p. digitalISSN:- 1468-6244
- Adult
- Alleles
- Ataxins
- Central Nervous System Neoplasms -- blood supply
- Comorbidity
- Diagnosis, Differential
- Female
- Humans
- Ligases -- genetics
- Male
- Middle Aged
- Mutation -- genetics
- Nerve Tissue Proteins
- Olivopontocerebellar Atrophies -- diagnosis
- Pedigree
- Proteins -- genetics
- Spinocerebellar Degenerations -- diagnosis
- Trinucleotide Repeat Expansion -- genetics
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases
- Vascular Neoplasms -- diagnosis
- Von Hippel-Lindau Tumor Suppressor Protein
- von Hippel-Lindau Disease -- diagnosis
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Publication Type: Case Reports; Letter
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