title: Novel human pathological mutations. Gene symbol: HSD17B3. Disease: 17 beta-hydroxysteroid dehydrogenase-3 deficiency.
authors.affiliation: All Children's Hospital, 33701, Saint Petersburg, USA. muellert@allkids.org
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: Adam
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000145:classification / Q000172:deficiency* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases