Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. [electronic resource]
Producer: 20161013Description: 84-97 p. digitalISSN:- 1098-1004
- Amino Acid Sequence
- Animals
- Biopsy
- Cell Line
- Cluster Analysis
- Computational Biology -- methods
- Connective Tissue Diseases -- diagnosis
- DNA Mutational Analysis
- Exome
- Female
- Gene Expression
- Genes, Dominant
- High-Throughput Nucleotide Sequencing
- Humans
- Magnetic Resonance Imaging
- Male
- Membrane Glycoproteins -- chemistry
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Sequence Alignment
- Skin -- pathology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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