TY  - GEN
AU  - McLaughlin,Heather M
AU  - Kelly,Melissa A
AU  - Hawley,Pamela P
AU  - Darras,Basil T
AU  - Funke,Birgit
AU  - Picker,Jonathan
TI  - Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
SN  - 1471-2350
PY  - 2013///0826
KW  - Adult
KW  - Base Sequence
KW  - Cardiomyopathies
KW  - genetics
KW  - Cardiomyopathy, Dilated
KW  - Desmin
KW  - Family
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Genetic Variation
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Pedigree
KW  - Sequence Alignment
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1186/1471-2350-14-68
ER  -