Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. [electronic resource]
Producer: 20160808Description: 863-72 p. digitalISSN:- 1617-4623
- Abnormalities, Multiple -- genetics
- Adult
- Alternative Splicing -- genetics
- DNA Mutational Analysis
- Ellis-Van Creveld Syndrome -- genetics
- Exons -- genetics
- Female
- Heterozygote
- Humans
- Infant
- Intercellular Signaling Peptides and Proteins
- Introns -- genetics
- Limb Deformities, Congenital -- genetics
- Male
- Membrane Proteins
- Mutation
- Pedigree
- Phenotype
- Proteins -- genetics
- RNA Splice Sites -- genetics
- Tooth Abnormalities -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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