Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

European Journal of Human Genetics

Volumn 10, Issue 11, 2002, Pages 757-766

  Vervoort, Virginie S ^a,b   Smith, Richard J H ^c   O'Brien, Jane ^d   Schroer, Richard ^b   Abbott, Albert ^a   Stevenson, Roger E ^b   Schwartz, Charles E ^a,b  

^a CLEMSON UNIVERSITY   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF IOWA HEALTH CARE   (United States)

^d Franciscan Children's Hospital   (United States)

Author keywords

8q13.3; Autosomal dominant disorder; Branchio Oto Renal; Complex rearrangements; EYA1; Mutation detection

Indexed keywords

EYA1 PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG; EYA1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN TYROSINE PHOSPHATASE; SIGNAL PEPTIDE; TRANSACTIVATOR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIOOTORENAL SYNDROME; CHROMOSOME 8; CHROMOSOME INVERSION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE TRANSMISSION; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; DNA SEQUENCE; GENETICS; PEDIGREE; WESTERN BLOTTING;

BLOTTING, SOUTHERN; BLOTTING, WESTERN; BRANCHIO-OTO-RENAL SYNDROME; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INVERSION, CHROMOSOME; MALE; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANS-ACTIVATORS;

EID: 1842845092     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200877     Document Type: Article

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