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Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense muta...

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Autori principali: Apfelstedt-Sylla, E, Theischen, M, Rüther, K, Wedemann, H, Gal, A, Zrenner, E
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC505014/
https://ncbi.nlm.nih.gov/pubmed/7880786
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