Branchio-oto-renal syndrome: Identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

Genetic Testing

Volumn 1, Issue 4, 1998, Pages 243-251

  Kumar, Shrawan ^a   Deffenbacher, Karen ^a   Cremers, Cor W R J ^b   Van Camp, Guy ^c   Kimberling, William J ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

EYA1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PRIMER DNA; PROTEIN TYROSINE PHOSPHATASE; SIGNAL PEPTIDE; TRANSACTIVATOR PROTEIN;

ARTICLE; BRANCHIOOTORENAL SYNDROME; CHROMOSOME 8; DOMINANT GENE; FEMALE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CHROMOSOMES, HUMAN, PAIR 8; DNA PRIMERS; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 0000203969     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.243     Document Type: Article

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