A Novel Variant of Combined Granular-Lattice Corneal Dystrophy Associated With the Met619Lys Mutation in the TGFBI Gene

OBJECTIVE: To report a novel mutation in TGFBI (Gen-Bank NM_000358), p.Met619Lys, associated with a variant of combined granular-lattice corneal dystrophy. METHODS: Slitlamp examination and DNA collection from the proband and affected and unaffected relatives. All 17 exons of TGFBI were amplified an...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Aldave, Anthony J., Yellore, Vivek S., Sonmez, Baris, Bourla, Nirit, Salem, Andrew K., Khan, M. Ali, Rayner, Sylvia A., Glasgow, Ben J.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860538/
https://ncbi.nlm.nih.gov/pubmed/18332318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archopht.126.3.371
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker