D-bifunctional protein deficiency

OMIM:261515
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	HSD17B4
Reference transcript	NM_000414.3
DNA Change	c.1531T>C
A.A. Change	p.Trp511Arg
Exon/Intron	exon 18
Mutation Type	substitution
Reference	van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999 Aug;8(8):1509-16.

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