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Mitochondrial Encephalomyopathie
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Mitochondrial Encephalomyopathie
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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
by
Lamperti C.
,
Fang M.
,
Invernizzi F.
,
Liu X.
,
Wang H.
,
Zhang Q.
,
Carrara F.
,
Moroni I.
,
Zeviani M.
,
Zhang J.
,
Ghezzi D.
Published in
Molecular Genetics and Metabolism
(2012)
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Article in Journal/Newspaper
1
Author
Carrara F.
1
Fang M.
1
Ghezzi D.
1
Invernizzi F.
1
Lamperti C.
1
Liu X.
1
Moroni I.
1
Wang H.
1
Zeviani M.
1
Zhang J.
1
Zhang Q.
1
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Topic
Adolescent
1
Amino Acid Sequence
1
Child
1
DNA
1
Encephalomyopathy
1
Exome
1
Exome-sequencing
1
Female
1
Homozygote
1
Human
1
Missense
1
Mitochondrial
1
Mitochondrial DNA depletion
1
Mitochondrial Encephalomyopathie
Mitochondrial disorder
1
Molecular Sequence Data
1
Muscle
1
Mutation
1
Pedigree
1
SUCLA2
1
Sequence Alignment
1
Sequence Analysis
1
Sibling
1
Skeletal
1
Succinate-CoA Ligase
1
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Content Provider
Padua Research Archive (IRIS - Università degli Studi di Padova)
1
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English
1
Open Polar Keyword
Faroe Islands
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