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Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

✍ Scribed by Katherine L. Dry; Forbes D.C. Manson; Alan Lennon; Arthur A.B. Bergen; Dieuwke B. Van Dorp; Alan F. Wright


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
332 KB
Volume
13
Category
Article
ISSN
1059-7794

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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