Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. [electronic resource]
- Human mutation 1993
- 28-36 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1059-7794
10.1002/humu.1380020106 doi
Adolescent Adult Alleles Amino Acid Sequence Base Sequence DNA DNA Mutational Analysis Ehlers-Danlos Syndrome--genetics Female Humans Introns Male Middle Aged Molecular Sequence Data Mutation Pedigree Procollagen--genetics RNA Splicing RNA, Messenger--metabolism Temperature