Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. [electronic resource]
Producer: 20180717Description: 103-113 p. digitalISSN:- 1098-1004
- Adolescent
- Brain -- abnormalities
- Child
- Conserved Sequence
- DNA Mutational Analysis
- Female
- Filamins -- chemistry
- Gastrointestinal Tract -- metabolism
- Gene Expression
- Genetic Association Studies
- Genetic Heterogeneity
- Humans
- Loss of Function Mutation
- Magnetic Resonance Imaging
- Male
- Muscle, Smooth -- metabolism
- Phenotype
- Protein Isoforms
- Transcription, Genetic
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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