RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Patients from 76 independent families with various forms of mostly central retinal dystrophies were screened for mutations in the RDS/peripherin gene by means of SSCP analysis and direct DNA sequencing. Two nonsense mutations (Gln239ter, Tyr285ter), five missense mutations (Arg172Trp, Lys197Glu, Gly...

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Main Authors: Kohl, S, Christ-Adler, M, Apfelstedt-Sylla, E, Kellner, U, Eckstein, A, Zrenner, E, Wissinger, B
Format: Artigo
Language:Inglês
Published: 1997
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051021/
https://ncbi.nlm.nih.gov/pubmed/9279751
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