Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

JARO - Journal of the Association for Research in Otolaryngology

Volumn 12, Issue 6, 2011, Pages 753-766

  Weegerink, Nicole J D ^a,c   Schraders, Margit ^a,b,c   Oostrik, Jaap ^a,b,c   Huygen, Patrick L M ^a   Strom, Tim M ^d   Granneman, Susanne ^a   Pennings, Ronald J E ^a,c   Venselaar, Hanka ^b   Hoefsloot, Lies H ^a   Elting, Mariet ^e   Cremers, Cor W R J ^a,c   Admiraal, Ronald J C ^a,c   Kremer, Hannie ^a,b,c   Kunst, Henricus P M ^a,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cochlear implantation; DFNB8 10; Genotype phenotype correlations; Ski slope audiogram; TMPRSS3 mutations

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUDIOGRAPHY; CLINICAL ARTICLE; COCHLEA PROSTHESIS; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SPEECH AUDIOMETRY; TMPRSS3 GENE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AUDIOMETRY, PURE-TONE; AUDIOMETRY, SPEECH; CHILD; CHILD, PRESCHOOL; COCHLEAR IMPLANTATION; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HEARING LOSS, BILATERAL; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEOPLASM PROTEINS; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84855645034     PISSN: 15253961     EISSN: 14387573     Source Type: Journal    
DOI: 10.1007/s10162-011-0282-3     Document Type: Article

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