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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-3-27
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pubmed:abstractText |
We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0002-9394
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
143
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
656-62
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pubmed:meshHeading |
pubmed-meshheading:17306754-Adolescent,
pubmed-meshheading:17306754-Adult,
pubmed-meshheading:17306754-Aged,
pubmed-meshheading:17306754-Aged, 80 and over,
pubmed-meshheading:17306754-Child,
pubmed-meshheading:17306754-Child, Preschool,
pubmed-meshheading:17306754-Cross-Sectional Studies,
pubmed-meshheading:17306754-DNA Mutational Analysis,
pubmed-meshheading:17306754-GTP Phosphohydrolases,
pubmed-meshheading:17306754-Heteroduplex Analysis,
pubmed-meshheading:17306754-Humans,
pubmed-meshheading:17306754-Middle Aged,
pubmed-meshheading:17306754-Mutation,
pubmed-meshheading:17306754-Optic Atrophy, Autosomal Dominant,
pubmed-meshheading:17306754-Pedigree,
pubmed-meshheading:17306754-Penetrance,
pubmed-meshheading:17306754-Phenotype,
pubmed-meshheading:17306754-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:17306754-Visual Acuity
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pubmed:year |
2007
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pubmed:articleTitle |
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
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pubmed:affiliation |
Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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