Identification of three novel mutations in human EYA1 protein associated with Branchio-oto-renal syndrome

Human Mutation

Volumn 11, Issue 6, 1998, Pages 443-449

  Kumar, Shrawan ^a   Kimberling, William J ^a   Weston, Michael D ^a   Schaefer, Bradley G ^a,b   Berg, Mary Anne ^c,e   Marres, Henri A M ^d   Cremers, Cor W R J ^d  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

Branchio oto renal syndrome; Heteroduplex analysis; Mutation detection

Indexed keywords

HETERODUPLEX;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIAL ARCH; CARBOXY TERMINAL SEQUENCE; DNA FLANKING REGION; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; HEARING LOSS; HUMAN; HUMAN CELL; KIDNEY DISEASE; MALFORMATION SYNDROME; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; DNA PRIMERS; EXONS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 0031980199     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S     Document Type: Article

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