title: An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: I
authors.initials: I
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Tsuchida
authors.forename: K
authors.initials: K
authors.lastname: Oyama
authors.forename: M
authors.initials: M
authors.lastname: Komatsu
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D000293:Adolescent; D000818:Animals; D019556:COS Cells; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors