title: A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
abstract: We report a new nonsense mutation in the human sedlin (SEDL) gene in a family with X-linked spondyloepiphyseal dysplasia tarda. A substitution of cytosine for adenine at nucleotide position 329 causing a nonsense mutation (S110X) in exon 6 was identified in the affected patient in the family.
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
authors.forename: Yi-Ru
authors.initials: YR
authors.lastname: Shi
authors.forename: Cheng-Chun
authors.initials: CC
authors.lastname: Lee
authors.forename: Yu-An
authors.initials: YA
authors.lastname: Hsu
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D010009:Osteochondrodysplasias / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors