A novel splice site mutation in EYA4 causes DFNA10 hearing loss

American Journal of Medical Genetics, Part A

Volumn 143, Issue 14, 2007, Pages 1599-1604

  Hildebrand, Michael S ^a   Coman, David ^b,c   Yang, Tao ^a   Gardner, R J McKinlay ^b,c   Rose, Elizabeth ^c   Smith, Richard J H ^a,d   Bahlo, Melanie ^e   Dahl, Hans Henrik M ^b,c  

^a UNIVERSITY OF IOWA   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF IOWA   (United States)

^e WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

DFNA10; EYA4; Intron; Phenocopy; Splice acceptor site

Indexed keywords

EYES ABSENT 4 PROTEIN; GENE PRODUCT; MESSENGER RNA; PYRIMIDINE; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DFNA10 GENE; DISEASE SEVERITY; EYA4 GENE; FAMILIAL DISEASE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEARING LOSS; HUMAN; LONG TERM EXPOSURE; MULTIGENE FAMILY; NOISE; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA SPLICING;

ALTERNATIVE SPLICING; AUDIOMETRY; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; LOD SCORE; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANS-ACTIVATORS;

EID: 34447283304     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31860     Document Type: Article

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