title: Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
authors.forename: Kyung M
authors.initials: KM
authors.lastname: Kim
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Young S
authors.initials: YS
authors.lastname: Park
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D001176:Arthrogryposis / Q000235:genetics*; D001483:Base Sequence; D002779:Cholestasis / Q000235:genetics*; D018076:DNA, Complementary / Q000032:analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012313:RNA / Q000032:analysis; D022821:RNA Splice Sites; D051437:Renal Insufficiency / Q000235:genetics*; D056910:Republic of Korea; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D022821:RNA Splice Sites; C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins; D012313:RNA