Concepedia

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem, Giovanfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, María Teresa García‐Silva, Brigitte Vollmer,

The American Journal of Human Genetics · 2004 · 203 citations · 26 references

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26

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

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Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Eric M. Sobel, Kenneth Lange · PubMed · 1996 · 1.2K citations · Full text

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Identification of a gene causing human cytochrome <i>c</i> oxidase deficiency by integrative genomics

Vamsi K. Mootha, Kathleen A. Miller, Jakob Bunkenborg et al. · Proceedings of the National Academy of Sciences · 2003 · 573 citations

, , +17

Mitochondrial membrane remodelling regulated by a conserved rhomboid protease

G. Angus McQuibban, Saroj Saurya, Matthew Freeman · Nature · 2003 · 391 citations

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Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database

Valeria Tiranti · Human Molecular Genetics · 1997 · 211 citations · Full text

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