Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. [electronic resource]
Producer: 19971020Description: 94-105 p. digitalISSN:- 0148-7299
- Adult
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Collagen -- analysis
- DNA Primers
- Ehlers-Danlos Syndrome -- genetics
- Exons -- genetics
- Female
- Humans
- Infant, Newborn
- Male
- Microscopy, Electron
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Procollagen -- analysis
- RNA, Messenger -- metabolism
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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