Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy
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 (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article
Abetalipoproteinaemia arising from a new variant of microsomal triglyceride transfer protein in a child presenting with chronic fat malabsorption
Eke, C B, Marais, A D, De Lacy, R J, Hooper, A J, Ratanjee, B D, Goddard, E A
Published in SAJCH : the South African journal of child health (01.04.2021)
Published in SAJCH : the South African journal of child health (01.04.2021)
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Journal Article
Abetalipoproteinaemia arising from a new variant of microsomal triglyceride transfer protein in a child presenting with chronic fat malabsorption
Eke, CB, Marais, AD, De Lacy, RJ, Hooper, AJ, Ratanjee, BD, Goddard, EA
Published in SAJCH : the South African journal of child health (30.04.2021)
Published in SAJCH : the South African journal of child health (30.04.2021)
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Journal Article