Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.
作者信息
Howell N, McCullough D, Bodis-Wollner I
出版信息
Am J Hum Genet. 1992 Feb;50(2):443-6.
Abstract
摘要
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本文引用的文献
1
LEBER'S DISEASE IN THE NETHERLANDS.
Doc Ophthalmol. 1963;17:1-162. doi: 10.1007/BF00573524.
2
The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease.
Trans Ophthalmol Soc U K (1962). 1985;104 ( Pt 8):845-52.
3
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees.
Arch Ophthalmol. 1987 May;105(5):665-71. doi: 10.1001/archopht.1987.01060050083043.
4
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
5
Does sporadic Leber's disease exist?
J Clin Neuroophthalmol. 1988 Dec;8(4):225-9.
6
Rapid segregation of heteroplasmic bovine mitochondria.
Nucleic Acids Res. 1989 Sep 25;17(18):7325-31. doi: 10.1093/nar/17.18.7325.
7
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
J Med Genet. 1989 Dec;26(12):739-43. doi: 10.1136/jmg.26.12.739.
8
A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.
N Engl J Med. 1989 May 18;320(20):1300-5. doi: 10.1056/NEJM198905183202002.
9
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
Biochem Biophys Res Commun. 1990 Aug 16;170(3):994-7. doi: 10.1016/0006-291x(90)90490-e.
10
Variable genotype of Leber's hereditary optic neuropathy patients.
Am J Ophthalmol. 1990 Jun 15;109(6):625-31. doi: 10.1016/s0002-9394(14)72429-8.
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