Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.
作者信息
Bellingham J, Gregory-Evans C Y, Gregory-Evans K
出版信息
J Med Genet. 1998 Jun;35(6):527. doi: 10.1136/jmg.35.6.527.
Abstract
摘要
相似文献
1
Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.位于19号染色体长臂13.3区的视锥视杆细胞营养不良基因CRX的微卫星标记。
J Med Genet. 1998 Jun;35(6):527. doi: 10.1136/jmg.35.6.527.
2
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.一种新型光感受器特异性同源盒基因（CRX）突变导致的视锥-视杆营养不良，该基因对光感受器的维持至关重要。
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From CRX to CRD.从CRX到CRD。
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Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.视锥-视杆细胞视网膜营养不良与19号染色体q区的遗传连锁及分离畸变证据。
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Meiotic drive at the myotonic dystrophy and the cone-rod dystrophy loci on chromosome 19q13.3.19号染色体长臂13.3区强直性肌营养不良症和视锥视杆营养不良症基因座上的减数分裂驱动。
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Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.19号染色体q区圆锥-杆状细胞视网膜营养不良基因座的精细定位
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Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.一个患有视锥-视杆营养不良的日本家庭中CRX基因的新型615delC突变。
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Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.常染色体隐性锥杆营养不良CORD8的新基因座定位于1号染色体1q12 - Q24。
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本文引用的文献
1
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.一种新型光感受器特异性同源盒基因（CRX）突变导致的视锥-视杆营养不良，该基因对光感受器的维持至关重要。
Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7.
2
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.Crx是一种新型的类otx同源框基因，表现出光感受器特异性表达并调节光感受器分化。
Cell. 1997 Nov 14;91(4):531-41. doi: 10.1016/s0092-8674(00)80439-0.
3
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.对11个患有3型视网膜色素变性基因型家系的RPGR基因分析：编码区突变较少，但两个家系存在剪接缺陷。
Am J Hum Genet. 1997 Sep;61(3):571-80. doi: 10.1086/515523.
4
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.无脉络膜症（CHM）的分子基础：涉及Rab护送蛋白1（REP-1）基因的突变
Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.
5
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
Genome Res. 1996 Feb;6(2):92-101. doi: 10.1101/gr.6.2.92.
6
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).一种与RCC1鸟嘌呤核苷酸交换因子具有同源性的基因（RPGR）在X连锁视网膜色素变性（RP3）中发生突变。
Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35.
7
A comprehensive genetic map of the human genome based on 5,264 microsatellites.基于5264个微卫星构建的人类基因组综合遗传图谱。
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
8
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.视锥-视杆细胞视网膜营养不良与19号染色体q区的遗传连锁及分离畸变证据。
Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210.
9
Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.19号染色体q区圆锥-杆状细胞视网膜营养不良基因座的精细定位
Am J Hum Genet. 1994 Nov;55(5):1061-3.
10
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.19号染色体q区视锥-视杆细胞性视网膜营养不良。眼部表型。
Arch Ophthalmol. 1995 Feb;113(2):195-201. doi: 10.1001/archopht.1995.01100020079033.
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