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Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency
by
Didiasova, Miroslava
,
Cesaro, Samuele
,
Feldhoff, Simon
,
Bettin, Ilaria
,
Tiegel, Nana
,
Füssgen, Vera
,
Bertoldi, Mariarita
,
Tikkanen, Ritva
Published in
International journal of molecular sciences
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International Journal Of Molecular Sciences
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Aldehyde Dehydrogenases
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Amino Acid Metabolism, Inborn Errors - Genetics
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Biochemistry & Molecular Biology
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Chaperones
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Chemistry
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Chemistry, Multidisciplinary
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Cloning
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Dehydrogenases
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Developmental Disabilities
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Enzymes
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Female
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Fibroblasts
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Gaba
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Genetic Aspects
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Genetic Variation
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Humans
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Life Sciences & Biomedicine
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Male
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Mitochondria
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Mutation
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