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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
1995-8-7
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pubmed:abstractText |
The maternal inheritance of Leber's hereditary optic neuropathy (LHON) is caused by defects in the genes of mitochondrial DNA (mtDNA). The most prevalent mtDNA mutation, present in 40% to 90% of families with this disease, is a G to A substitution at nucleotide position 11778. The rapid and accurate quantification of heteroplasmy of this mutation will help determine the relative risk for disease expression.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
36
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1714-20
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pubmed:dateRevised |
2010-3-24
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pubmed:meshHeading |
pubmed-meshheading:7601652-Adult,
pubmed-meshheading:7601652-Base Sequence,
pubmed-meshheading:7601652-DNA,
pubmed-meshheading:7601652-DNA, Mitochondrial,
pubmed-meshheading:7601652-DNA Mutational Analysis,
pubmed-meshheading:7601652-DNA Primers,
pubmed-meshheading:7601652-Electrophoresis, Agar Gel,
pubmed-meshheading:7601652-Female,
pubmed-meshheading:7601652-Humans,
pubmed-meshheading:7601652-Male,
pubmed-meshheading:7601652-Middle Aged,
pubmed-meshheading:7601652-Molecular Sequence Data,
pubmed-meshheading:7601652-Optic Atrophies, Hereditary,
pubmed-meshheading:7601652-Pedigree,
pubmed-meshheading:7601652-Point Mutation,
pubmed-meshheading:7601652-Polymerase Chain Reaction,
pubmed-meshheading:7601652-Polymorphism, Single-Stranded Conformational
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pubmed:year |
1995
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pubmed:articleTitle |
Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism.
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pubmed:affiliation |
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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