Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Human Genetics

Volumn 115, Issue 6, 2004, Pages 515-524

  Bi, Weimin ^a   Saifi, G Mustafa ^a   Shaw, Christine J ^a   Walz, Katherina ^a   Fonseca, Patricia ^a   Wilson, Meredith ^c   Potocki, Lorraine ^a,b   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; REGULATOR PROTEIN; RETINOIC ACID; RETINOIC ACID INDUCED 1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADOLESCENT; ARTICLE; BIOINFORMATICS; CARBOXY TERMINAL SEQUENCE; CHROMATIN; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENE MAPPING; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SMITH MAGENIS SYNDROME; TRANSCRIPTION REGULATION; ZINC FINGER MOTIF;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BLOTTING, NORTHERN; CHROMATIN; CODON, NONSENSE; COMPUTATIONAL BIOLOGY; CONSERVED SEQUENCE; DATABASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOTE; HUMANS; MENTAL RETARDATION; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; PROTEINS; SYNDROME; TISSUE DISTRIBUTION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; ZINC FINGERS;

EID: 8444228597     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1187-6     Document Type: Article

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