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Three Novel Mutations of thePHEXGene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets

โœ Scribed by Weibo Xia; Xunwu Meng; Yan Jiang; Mei Li; Xiaoping Xing; Li Pang; Ou Wang; Yu Pei; Li-Yun Yu; Yue Sun; Yingying Hu; Xueying Zhou


Book ID
105913560
Publisher
Springer
Year
2007
Tongue
English
Weight
247 KB
Volume
81
Category
Article
ISSN
1432-0827

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Three novel mutations of theRPGR gene ex
โœ Yokoyama, Akiko ;Maruiwa, Futoshi ;Hayakawa, Mutsuko ;Kanai, Atsushi ;Vervoort, ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 257 KB ๐Ÿ‘ 2 views

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