title: Molecular characterization of a type II collagen defect in spondyloepiphyseal dysplasia.
authors.affiliation: Department of Microbiology and Immunology, Morse Institute of Molecular Genetics, State University of New York Health Sciences Center at Brooklyn 11203.
authors.forename: B
authors.initials: B
authors.lastname: Lee
authors.forename: H
authors.initials: H
authors.lastname: Vissing
authors.forename: F
authors.initials: F
authors.lastname: Ramirez
authors.forename: D
authors.initials: D
authors.lastname: Rogers
authors.forename: D
authors.initials: D
authors.lastname: Rimoin
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree
chemical_list: D003094:Collagen; D004247:DNA