DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Human Mutation

Volumn 32, Issue 7, 2011, Pages 825-834

  Hildebrand, Michael S ^a   Morín, Matías ^b   Meyer, Nicole C ^a   Mayo, Fernando ^b   Modamio Hoybjor, Silvia ^b   Mencía, Angeles ^b   Olavarrieta, Leticia ^b   Morales Angulo, Carmelo ^c   Nishimura, Carla J ^a   Workman, Heather ^d   Deluca, Adam P ^e   del Castillo, Ignacio ^b   Taylor, Kyle R ^e   Tompkins, Bruce ^e   Goodman, Corey W ^e   Schrauwen, Isabelle ^f   Wesemael, Maarten Van ^f   Lachlan, K ^g   Shearer, A Eliot ^a   Braun, Terry A ^a,e   Huygen, Patrick L M ^h   Kremer, Hannie ^h,i   Van Camp, Guy ^f   Moreno, Felipe ^b   Casavant, Thomas L ^a,e   Smith, Richard J H ^a,e   Moreno Pelayo, Miguel A ^b   more..

^a UNIVERSITY OF IOWA   (United States)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^d CHILDREN S MEDICAL CENTER   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DFNA12; DFNA8; High frequency hearing loss; Mid frequency hearing loss; TECTA

Indexed keywords

ALPHA TECTORIN; ENTACTIN; PROTEIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; BELGIUM; CODON; COHORT ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENGLISH AS A SECOND LANGUAGE; EVOKED OTOACOUSTIC EMISSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; ADULT; AGED; AUDIOMETRY; CHILD; CHILD, PRESCHOOL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GPI-LINKED PROTEINS; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY;

EID: 79959708887     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21512     Document Type: Article

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