Papers: 10.1186/1750-1172-7-90

https://doi.org/10.1186/1750-1172-7-90

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

Cited by: 58
Author(s): Hugh J. McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe Gottlieb, Sarah Lawrence, Alex MacKenzie, Chandree L. Beaulieu, Petra Mooyer, Ronald J. A. Wanders, Jacek Majewski, Dennis E. Bulman, Michael T. Geraghty, Sacha Ferdinandusse, Kym M. Boycott
Published: almost 14 years ago

Software Mentions 1