Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

被引：52

作者：

Mears, AJ

Gieser, L

Yan, D

Chen, C

Fahrner, S

Hiriyanna, S

Fujita, R

Jacobson, SG

Sieving, PA

Swaroop, A

机构：

[1] Univ Michigan, Kellogg Eye Ctr, Dept Ophthalmol, Ann Arbor, MI 48105 USA

[2] Univ Michigan, Kellogg Eye Ctr, Dept Human Genet, Ann Arbor, MI 48105 USA

[3] Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 64卷 / 03期

关键词：

D O I：

10.1086/302298

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：897 / 900

页数：4

共 18 条

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[4] Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
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[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) : 571 - 580
[5] Fujita R, 1996, Mol Vis, V2, P4
[6] Fujita R, 1996, AM J HUM GENET, V59, P152
[7] A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
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[8] A practical diagnostic test for choroideremia
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[J]. OPHTHALMOLOGY, 1998, 105 (09) : 1637 - 1640
[9] MCGUIRE RE, 1995, AM J HUM GENET, V57, P87
[10] A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
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