Mutations in the RP2 gene in patients with X-linked retinitis pigmentosa

被引：0
作者：
Sharon, D
Berson, EL
Dryja, TP
机构：
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 1999年 / 40卷 / 04期
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暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
2475B350
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页码：S470 / S470
页数：1
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[41]   A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa [J].
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[47]   RETINITIS-PIGMENTOSA FAMILIES SHOWING APPARENT X-LINKED INHERITANCE BUT UNLINKED TO THE RP2 OR RP3 LOCI [J].
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JAY, B ;
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Jacobson, SG ;
Sieving, PA ;
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