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Refinement of the localization of the X-linked ocular albinism gene.

作者信息

Bergen A A, Zijp P, Schuurman E J, Bleeker-Wagemakers E M, Apkarian P, van Ommen G J

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Genomics. 1993 Apr;16(1):272-3. doi: 10.1006/geno.1993.1176.

DOI:10.1006/geno.1993.1176
PMID:8486373
Abstract

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)-DXS85-DXS16-Xcen.

摘要

相似文献

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Refinement of the localization of the X-linked ocular albinism gene.
Genomics. 1993 Apr;16(1):272-3. doi: 10.1006/geno.1993.1176.
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引用本文的文献

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Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.在患有眼白化病且OA1基因有新突变的患者中，诱发电场显示出视神经纤维交叉异常。
Br J Ophthalmol. 2005 Jul;89(7):820-4. doi: 10.1136/bjo.2004.060582.
2
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.卡尔曼综合征和X连锁眼白化病基因座的基因定位。
J Med Genet. 1993 Nov;30(11):923-5. doi: 10.1136/jmg.30.11.923.
3
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
一名患有六种单基因疾病患者的Xp22.3末端缺失分析：对X连锁眼白化病基因定位的启示
J Med Genet. 1993 Oct;30(10):838-42. doi: 10.1136/jmg.30.10.838.
4
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.X连锁性眼白化病的表型变异性：与连锁基因型的关系。
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5
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.遗传性眼病基因图谱的最新进展：视网膜、脉络膜和玻璃体的原发性遗传性疾病
J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.