Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy

Choo, CH; Chung, DD; Ledwitch, KV; Kassels, A; Meiler, J; Aldave, AJ

Aldave, AJ (通讯作者)，Univ Calif Los Angeles, David Geffen Sch Med, Stein Eye Inst, 200 Stein Plaza, Los Angeles, CA 90095 USA.

OPHTHALMIC GENETICS, 2022; 43 (4): 530

Abstract

Purpose: To provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor-beta-induced (TGFBI) gene as......

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