Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. [electronic resource]
Producer: 20131218Description: 113-21 p. digitalISSN:- 1364-6753
- Adult
- Aged
- Child
- Female
- Humans
- INDEL Mutation -- genetics
- Intracellular Signaling Peptides and Proteins -- genetics
- LIM Domain Proteins -- genetics
- Male
- Mitogen-Activated Protein Kinases -- genetics
- Muscle Proteins -- genetics
- Muscular Dystrophy, Emery-Dreifuss -- genetics
- Pedigree
- Phenotype
- Protein Isoforms -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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