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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S. Ferdinandusse | R. Wanders | K. Boycott | D. Bulman | C. Beaulieu | J. Majewski | A. MacKenzie | J. Schwartzentruber | S. Lawrence | M. Geraghty | H. McMillan | Chloe Gottlieb | P. Mooyer | Thea Worthylake