Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Am J Hum Genet
; 51(3): 497-507, 1992 Sep.
Article
in En
| MEDLINE
| ID: mdl-1496983
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Procollagen
/
Ehlers-Danlos Syndrome
/
Mosaicism
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Am J Hum Genet
Year:
1992
Type:
Article