Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. [electronic resource]
Producer: 20011207Description: 989-1001 p. digitalISSN:- 0002-9297
- Alleles
- Base Sequence
- Blotting, Western
- Cell Nucleus -- genetics
- Cells, Cultured
- Codon, Nonsense -- genetics
- Collagen -- chemistry
- Collagen Type III -- chemistry
- Cytoplasm -- genetics
- DNA Mutational Analysis
- Ehlers-Danlos Syndrome -- classification
- Exons -- genetics
- Fibroblasts
- Frameshift Mutation -- genetics
- Genes, Dominant -- genetics
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation -- genetics
- Phenotype
- Polymorphism, Genetic -- genetics
- Procollagen -- chemistry
- Protein Structure, Quaternary
- RNA Precursors -- genetics
- RNA Stability
- RNA, Messenger -- genetics
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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