Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.
作者信息
Lunkes A, Hartung U, Magariño C, Rodríguez M, Palmero A, Rodríguez L, Heredero L, Weissenbach J, Weber J, Auburger G
出版信息
Am J Hum Genet. 1995 Oct;57(4):968-70.
Abstract
摘要
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本文引用的文献
1
Hereditary optic atrophy with dominant transmission; three Danish families.显性遗传的遗传性视神经萎缩；三个丹麦家族。
Acta Ophthalmol (Copenh). 1950;28(4):437-68. doi: 10.1111/j.1755-3768.1950.tb00001.x.
2
Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.具有显性遗传模式的婴儿型视神经萎缩：对19个丹麦家庭的临床和遗传学研究
Acta Ophthalmol Suppl. 1959;164(Supp 54):1-147.
3
Visual prognosis in autosomal dominant optic atrophy (Kjer type).
Am J Ophthalmol. 1993 Mar 15;115(3):360-7. doi: 10.1016/s0002-9394(14)73589-5.
4
5
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.显性视神经萎缩（OPA1）定位于3号染色体q区域。I. 连锁分析。
Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977.
6
The 1993-94 Généthon human genetic linkage map.1993 - 1994年热那亚人类遗传连锁图谱。
Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246.
7
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.一例显性遗传性视神经萎缩患者眼部、视神经及脑部的组织病理学表现
Acta Ophthalmol (Copenh). 1983 Apr;61(2):300-12. doi: 10.1111/j.1755-3768.1983.tb01424.x.
8
Hereditary optic atrophies in childhood.儿童遗传性视神经萎缩
J Genet Hum. 1966 Dec;15(3):312-21.
9
Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families.
Am J Optom Arch Am Acad Optom. 1972 Mar;49(3):183-200. doi: 10.1097/00006324-197203000-00001.
10
A clinicopathologic study of autosomal dominant optic atrophy.常染色体显性遗传性视神经萎缩的临床病理研究
Am J Ophthalmol. 1979 Nov;88(5):868-75. doi: 10.1016/0002-9394(79)90565-8.
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