Evidence Source

Description	Imported from Merops: Merops-evidence: experimental \| Merops-type: physiological \| Merops-range: 28-2871
Method
Experimental system	unknown
Perturbation	none
Protease inhibitor(s) used
Directness	unknown
Physiological relevance	yes
Evidence Code(s)	inferred from experiment
Database / Laboratory	- Lab: Jewett T - DB: MEROPS
Raw data repository

Evidence for:

Publication(s)	A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T J Clin Invest. 1995 May;95(5):2373-8. PMID: 7738200

Publication(s)

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T