Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.
作者信息
Rosenfeld P J, McKusick V A, Amberger J S, Dryja T P
机构信息
Howe Laboratory, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
出版信息
J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.
Abstract
摘要
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本文引用的文献
1
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.
Nat Genet. 1993 May;4(1):54-8. doi: 10.1038/ng0593-54.
2
Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1.
Can J Ophthalmol. 1993 Apr;28(2):79-80.
3
Multipoint linkage analysis in X-linked juvenile retinoschisis.
Clin Genet. 1993 Mar;43(3):113-6. doi: 10.1111/j.1399-0004.1993.tb04433.x.
4
A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
Hum Mol Genet. 1993 Feb;2(2):207-8. doi: 10.1093/hmg/2.2.207.
5
Clinical features of affected males with X linked ocular albinism.
Br J Ophthalmol. 1993 Apr;77(4):222-7. doi: 10.1136/bjo.77.4.222.
6
Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.
J Med Genet. 1993 Apr;30(4):300-3. doi: 10.1136/jmg.30.4.300.
7
Refinement of the localization of the X-linked ocular albinism gene.
Genomics. 1993 Apr;16(1):272-3. doi: 10.1006/geno.1993.1176.
8
Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.
Genomics. 1993 Apr;16(1):259-61. doi: 10.1006/geno.1993.1171.
9
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
10
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Nat Genet. 1993 Mar;3(3):208-12. doi: 10.1038/ng0393-208.
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