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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

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Description scientific article published on 22 November 2012
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author: Jeremy Schwartzentruber  Hugh J. McMillan  Jacek Majewski  Ronald J A Wanders  Sacha Ferdinandusse  FORGE Canada  Chandree L Beaulieu  Dennis E Bulman  Kym M Boycott 

Publication date November 22, 2012
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