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

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

Bibliographic Details
Main Authors: McMillan, Hugh J, Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C, Lawrence, Sarah E, MacKenzie, Alex, Beaulieu, Chandree L, Mooyer, Petra A W, Wanders, Ronald J A, Majewski, Jacek, Bulman, Dennis E, Geraghty, Michael T, Ferdinandusse, Sacha, Boycott, Kym M
Format: Online
Language:English
Published: BioMed Central 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551712/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551712/

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