Abstract |
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Authors | Fanny Mochel, Melanie A Knight, Wing-Hang Tong, Dena Hernandez, Karen Ayyad, Tanja Taivassalo, Peter M Andersen, Andrew Singleton, Tracey A Rouault, Kenneth H Fischbeck, Ronald G Haller |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 82
Issue 3
Pg. 652-60
(Mar 2008)
ISSN: 1537-6605 [Electronic] United States |
PMID | 18304497
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- ISCU protein, human
- Iron-Sulfur Proteins
- RNA Splice Sites
- RNA, Messenger
- Succinate Dehydrogenase
- Aconitate Hydratase
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Topics |
- Aconitate Hydratase
(deficiency)
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Exercise Tolerance
(genetics)
- Homozygote
- Humans
- Iron-Sulfur Proteins
(genetics)
- Mitochondria
(enzymology)
- Mitochondrial Myopathies
(enzymology, genetics)
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- RNA Splice Sites
(genetics)
- RNA, Messenger
(metabolism)
- Succinate Dehydrogenase
(deficiency)
- Sweden
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