Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency (Q42919362)
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scientific article published on 22 November 2012
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency |
scientific article published on 22 November 2012 |
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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 (English)
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Kym M Boycott
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Ronald J A Wanders
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Sacha Ferdinandusse
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Jacek Majewski
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FORGE Canada Consortium
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Chandree L Beaulieu
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Dennis E Bulman
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Thea Worthylake
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Chloe C Gottlieb
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Sarah E Lawrence
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Alex Mackenzie
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Petra A W Mooyer
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Michael T Geraghty
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22 November 2012
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90
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