Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin, Jose Antonio

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. [electronic resource] - Human mutation Aug 2010 - E1622-31 p. digital

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

1098-1004

10.1002/humu.21305 doi


ADAMTS Proteins
Adolescent
Adult
Child
Child, Preschool
DNA Mutational Analysis
Ectopia Lentis--genetics
Female
Fibrillin-1
Fibrillins
Heterozygote
Homozygote
Humans
Male
Microfilament Proteins--genetics
Mutation--genetics
Pedigree
Thrombospondins--genetics