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Identification of a single MPV17 nonsenseāassociated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy
by
Meldau, S.
,
De Lacy, R.J.
,
Riordan, G.T.M.
,
Goddard, E.A.
,
Pillay, K.
,
Fieggen, K.J.
,
Marais, A.D.
,
Van der Watt, G.F.
Published in
Clinical genetics
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Clinical Genetics
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Alternative Splicing
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Genetic Disorders
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Genetics & Heredity
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Infants
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Life Sciences & Biomedicine
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Mitochondria
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Mitochondrial Dna Depletion Syndrome
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Mitochondrial Neurohepatopathy
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Mpv17
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Nonsense Associated Altered Splicing
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Pathogenesis
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Science & Technology
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South Africa
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Wiley-Blackwell Journals (Backfile Content)
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