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A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family
- Source :
- European journal of neurology. 20(7)
- Publication Year :
- 2012
- Subjects :
- Genetics
Male
Heterozygote
business.industry
Hearing Loss, Sensorineural
Bulbar Palsy, Progressive
Molecular Sequence Data
Membrane Transport Proteins
medicine.disease
Compound heterozygosity
Clinical neurology
Pedigree
Neurology
Brown–Vialetto–Van Laere syndrome
Italy
Mutation (genetic algorithm)
Mutation
medicine
Humans
Female
Genetic Predisposition to Disease
Neurology (clinical)
Amino Acid Sequence
business
Gene
Subjects
Details
- ISSN :
- 14681331
- Volume :
- 20
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- European journal of neurology
- Accession number :
- edsair.doi.dedup.....c778995d13288609bec92b48ce09f0e8