Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

European Journal of Human Genetics

Volumn 12, Issue 2, 2004, Pages 121-126

  Kaiser, Frank J ^a   Brega, Paola ^a   Raff, Michael L ^b,c   Byers, Peter H ^b   Gallati, Sabina ^d   Kay, Teresa Taylor ^e   de Almeida, Salomé ^e   Horsthemke, Bernhard ^a   Lüdecke, Hermann Josef ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d Universitats Kinderklinik   (Switzerland)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

Author keywords

Novel mutations; Nuclear localization signal; TRPS1

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; HISTIDINE; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANTHROPOMETRY; ARTICLE; CELL STRAIN COS7; CELL TRANSFER; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENETIC CONSERVATION; HUMAN; MISSENSE MUTATION; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN STRUCTURE; PROTEIN TRANSPORT; SKELETON MALFORMATION; STRUCTURE ANALYSIS; TRICHORHINOPHALANGEAL SYNDROMES;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; ANTHROPOMETRY; BASE SEQUENCE; COS CELLS; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASM PROTEINS; NUCLEAR LOCALIZATION SIGNALS; PEDIGREE; SUBCELLULAR FRACTIONS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 1342303644     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201094     Document Type: Article

References (14)

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