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RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnos...

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Autores principales: Sharon, Dror, Sandberg, Michael A., Rabe, Vivian W., Stillberger, Melissa, Dryja, Thaddeus P., Berson, Eliot L.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180492/
https://ncbi.nlm.nih.gov/pubmed/14564670
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