Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. [electronic resource]
Producer: 20130826Description: 68 p. digitalISSN:- 1471-2350
- Adult
- Base Sequence
- Cardiomyopathies -- genetics
- Cardiomyopathy, Dilated -- genetics
- Desmin -- genetics
- Family
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Genotype
- Heterozygote
- Humans
- Male
- Muscular Dystrophies -- genetics
- Mutation
- Pedigree
- Sequence Alignment
- Sequence Analysis, DNA
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Publication Type: Case Reports; Journal Article
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