Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
Am J Hum Genet
; 47(1): 112-20, 1990 Jul.
Article
in En
| MEDLINE
| ID: mdl-2349939
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aortic Aneurysm
/
RNA Splicing
/
Procollagen
/
Ehlers-Danlos Syndrome
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
1990
Type:
Article