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Brito et al., 2015 - Google Patents

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Brito et al., 2015

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Document ID
371770179396564152
Author
Brito S
Thompson K
Campistol J
Colomer J
Hardy S
He L
Fernández-Marmiesse A
Palacios L
Jou C
Jiménez-Mallebrera C
Armstrong J
Montero R
Artuch R
Tischner C
Wenz T
McFarland R
Taylor R
Publication year
Publication venue
Frontiers in genetics

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Background: Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes …
Continue reading at www.frontiersin.org (HTML) (other versions)

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    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • G01N33/00Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
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