Title : Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa.

Pub. Date : 2003

PMID : 14526423






1 Functional Relationships(s)
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1 A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr. Tyrosine rhodopsin Homo sapiens