Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

Weil, D

Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient. [electronic resource] - The Journal of biological chemistry Sep 1990 - 16007-11 p. digital

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

0021-9258


Alleles
Amino Acid Sequence
Base Sequence
Cloning, Molecular
Ehlers-Danlos Syndrome--genetics
Exons
Genes
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Procollagen--genetics
RNA Splicing
RNA, Messenger--genetics
Reference Values
Restriction Mapping