Title : A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

Pub. Date : 2008 May-Jun

PMID : 18661274






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 RESULTS: A novel heterozygous T to G transversion at the second nucleotide position of codon 433 (CTG>CGG), resulting in the replacement of leucine by arginine at codon 433 of the KRT12 gene (L433R), was detected in the proband and her affected father but not in her normal mother or the 50 controls. ctg keratin 12 Homo sapiens