A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred

Clinical Genetics

Volumn 70, Issue 1, 2006, Pages 63-67

  Clarke, Jason C ^a   Honey, E M ^b   Bekker, E ^b   Snyman, L C ^c   Raymond Jr , R M ^a   Lord, C ^a   Brophy, P D ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF PRETORIA   (South Africa)

^c UNIVERSITY OF PRETORIA   (South Africa)

Author keywords

Afrikaner; Branchio oto renal (BOR) syndrome; Branchiootic (BO) syndrome; Congenital anomalies; EYA1; Hearing loss; Kidney development; Potter's syndrome; Renal adysplasia

Indexed keywords

DNA; EYES ABSENT PROTEIN 1; GENE PRODUCT; PROTEIN EYA1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIOOTIC SYNDROME; BRANCHIOOTORENAL SYNDROME; EVOLUTIONARY HOMOLOGY; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEARING LOSS; HETEROZYGOTE DETECTION; HUMAN; KIDNEY ANOMALY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROTEIN FUNCTION; SOUTH AFRICA;

BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CODON, NONSENSE; DNA; EAR, EXTERNAL; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; MALE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PREGNANCY; PROTEIN-TYROSINE-PHOSPHATASE; SOUTH AFRICA;

EID: 33746930888     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00642.x     Document Type: Article

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