A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

Journal of medical genetics

Volumn 41, Issue 6, 2004, Pages

  Sabherwal, N ^a   Blaschke, R J ^a   Marchini, A ^a   Heine Suner, D ^a   Rosell, J ^a   Ferragut, J ^a   Blum, W F ^a   Rappold, G ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL NUCLEUS; CHEMISTRY; CHILD; CHONDRODYSPLASIA; FEMALE; FLUORESCENCE MICROSCOPY; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY; TUMOR CELL LINE; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE, TUMOR; CELL NUCLEUS; CHILD; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS;

EID: 19444385219     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.016402     Document Type: Article

References (0)