Concepedia

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AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY ASSOCIATED WITH A VAL200GLU MUTATION OF THE PERIPHERIN/RDS GENE

DOI

41

Citations

0

References

1996

Year

Mitsuru Nakazawa, Nobuhisa Nao‐i, Yuko Wada, Shuji Nakazaki, Futoshi Maruiwa, Atsushi Sawada, Makoto Tamai
Retina

Abstract

The mutation at codon 200 of the peripherin/RDS gene causes both cone and rod degeneration. The Val200Glu mutation results in a type of autosomal dominant CRD.