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.

Byers, P H

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] - American journal of medical genetics Oct 1997 - 94-105 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

0148-7299

10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o doi


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