Abstract |
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Authors | Pauline Gaignard, Minal Menezes, Manuel Schiff, Aurélien Bayot, Malgorzata Rak, Hélène Ogier de Baulny, Chen-Hsien Su, Mylene Gilleron, Anne Lombes, Heni Abida, Alexander Tzagoloff, Lisa Riley, Sandra T Cooper, Kym Mina, Padma Sivadorai, Mark R Davis, Richard J N Allcock, Nina Kresoje, Nigel G Laing, David R Thorburn, Abdelhamid Slama, John Christodoulou, Pierre Rustin |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 93
Issue 2
Pg. 384-9
(Aug 08 2013)
ISSN: 1537-6605 [Electronic] United States |
PMID | 23910460
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
Chemical References |
- CYC1 protein, S cerevisiae
- Insulin
- Iron-Sulfur Proteins
- Protein Subunits
- Saccharomyces cerevisiae Proteins
- Cytochromes c
- Cytochromes c1
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Topics |
- Amino Acid Sequence
- Child, Preschool
- Consanguinity
- Cytochromes c
(genetics, metabolism)
- Cytochromes c1
(genetics, metabolism)
- Electron Transport
- Female
- Fibroblasts
(enzymology, pathology)
- Genetic Complementation Test
- Humans
- Hyperglycemia
(drug therapy, enzymology, genetics, physiopathology)
- Insulin
(pharmacology)
- Iron-Sulfur Proteins
(genetics, metabolism)
- Ketosis
(drug therapy, enzymology, genetics, physiopathology)
- Male
- Mitochondria
(enzymology, genetics)
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Subunits
(genetics, metabolism)
- Saccharomyces cerevisiae
(enzymology, genetics)
- Saccharomyces cerevisiae Proteins
(genetics, metabolism)
- Skin
(enzymology, pathology)
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