Article
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
Ophthalmic genetics - 1 Dec 2003
Andréasson Sten, Breuer Debra K, Eksandh Louise, Ponjavic Vesna, Frennesson Christina, Hiriyanna Suja, Filippova Elena, Yashar Beverly M, Swaroop Anand
Abstract excerpt
PURPOSE: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the clinical spectrum of disease in families with a known molecular defect. METHODS: Seventeen unrelated families with RP and an apparent X-linked pattern of disease inheritance...
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