Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome

Laryngoscope

Volumn 122, Issue 5, 2012, Pages 1130-1136

  Wang, Shih Hao ^a,c   Wu, Chen Chi ^a   Lu, Ying Chang ^a   Lin, Yin Hung ^a   Su, Yi Ning ^a   Hwu, Wuh Liang ^a   Yu, I Shing ^b   Hsu, Chuan Jen ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^c CHIA YI CHRISTIAN HOSPITAL   (Taiwan)

Author keywords

branchio oto renal syndrome; EYA1; hearing loss; SIX1; SIX5

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EYA1; TRANSCRIPTION FACTOR SIX1; TRANSCRIPTION FACTOR SIX5; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ASIAN; BRANCHIOOTORENAL SYNDROME; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONDUCTION DEAFNESS; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; EAR DISEASE; EXTERNAL EAR MALFORMATION; FAMILY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INFANT; INNER EAR MALFORMATION; KIDNEY MALFORMATION; MIXED HEARING LOSS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PREAURICULAR PIT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN;

ADULT; AGED; BLOTTING, WESTERN; BRANCHIO-OTO-RENAL SYNDROME; CHILD; CHILD, PRESCHOOL; DNA; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUSCULAR DYSTROPHIES; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; PROTEIN TYROSINE PHOSPHATASES; TAIWAN;

EID: 84862798129     PISSN: 0023852X     EISSN: 15314995     Source Type: Journal    
DOI: 10.1002/lary.23217     Document Type: Article

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