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W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

✍ Scribed by Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Hamel; Mireille Claustres

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 12 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200006)15:6<583::aid-humu24>3.0.co;2-x

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## Abstract Most X‐linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X‐linked retinitis pigmentosa (XLRP), however, both recessive and semi‐dominant inheritance patterns have been reported. We identified an Israeli family with semi‐dominant XLRP due