Concepedia

Publication | Closed Access

CRYBB1 mutation associated with congenital cataract and microcornea.

60

Citations

0

References

2005

Year

Colin E. Willoughby, Ayad Shafiq, W. Ferrini, Louie Loh Yen Chan, Gail Billingsley, Megan Priston, Calvin Mok, Arvind Chandna, Stephen B. Kaye, Elise Héon
PubMed

Abstract

X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis.