Functional characterization of LMX1B mutations associated with nail-patella syndrome

Pediatric Research

Volumn 57, Issue 6, 2005, Pages 783-788

  Sato, Utako ^a   Kitanaka, Sachiko ^a   Sekine, Takashi ^a   Takahashi, Shori ^b   Ashida, Akira ^c   Igarashi, Takashi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MUTANT PROTEIN;

ADOLESCENT; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DOMINANT INHERITANCE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; JAPAN; LMX1B GENE; MALE; NAIL PATELLA SYNDROME; NONHUMAN; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN FUNCTION;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HELA CELLS; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION; NAIL-PATELLA SYNDROME; PHENOTYPE; POINT MUTATION; RECOMBINANT PROTEINS; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 19444388090     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000157674.63621.2C     Document Type: Article

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