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Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

โœ Scribed by Qing-lin Kang; Jia Xu; Zeng Zhang; Jin-wei He; Lian-song Lu; Wen-zhen Fu; Zhen-lin Zhang


Book ID
116303615
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
965 KB
Volume
423
Category
Article
ISSN
0006-291X

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We describe three new mutations in a recently identiยฎed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1ยฑ3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate