Title : A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.

Pub. Date : 1999 Jan

PMID : 9930165






1 Functional Relationships(s)
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1 RESULTS: Three affected persons were shown to have a heterozygous G-->T transversion at the second nucleotide position of codon 124 (Arg-->Leu) of the BIGH3 gene. Arginine transforming growth factor beta induced Homo sapiens