title: A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Sabherwal
authors.forename: R J
authors.initials: RJ
authors.lastname: Blaschke
authors.forename: A
authors.initials: A
authors.lastname: Marchini
authors.forename: D
authors.initials: D
authors.lastname: Heine-Suner
authors.forename: J
authors.initials: J
authors.lastname: Rosell
authors.forename: J
authors.initials: J
authors.lastname: Ferragut
authors.forename: W F
authors.initials: WF
authors.lastname: Blum
authors.forename: G
authors.initials: G
authors.lastname: Rappold
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D015153:Blotting, Western; D045744:Cell Line, Tumor; D002467:Cell Nucleus / Q000378:metabolism*; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D021381:Protein Transport; D017386:Sequence Homology, Amino Acid; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors; D004247:DNA