<i>RP1</i> Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily

<i>Background and Objectives</i>. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes...

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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI AG 2024-02-01
سلاسل:	Medicina
الموضوعات:	rod–cone dystrophy retinitis pigmentosa <i>RP1</i> gene founder effect inherited retinal dystrophies founder mutation
الوصول للمادة أونلاين:	https://www.mdpi.com/1648-9144/60/2/254
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!