A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency (Q43758112)
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English | A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency |
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A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency (English)
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Stanley H Korman
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James J Pitt
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Avihu Boneh
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Imad Dweikat
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Mokhtar Zater
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Vardiella Meiner
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Alisa Gutman
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Michèle Brivet
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17 August 2006
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89
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4
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332-338
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