Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.

Capuano, Alessandra

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. [electronic resource] - Human mutation Jan 2016 - 84-97 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22920 doi


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