TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

Human Mutation

Volumn 35, Issue 7, 2014, Pages 819-823

  Azaiez, Hela ^a   Booth, Kevin T ^a   Bu, Fengxiao ^a   Huygen, Patrick ^b   Shibata, Seiji B ^a   Shearer, A Eliot ^a,c   Kolbe, Diana ^a   Meyer, Nicole ^a   Black Ziegelbein, E Ann ^a   Smith, Richard J H ^a,c  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

Autosomal dominant; Hearing impairment; Hearing loss; Nonsyndromic; OtoSCOPE ; Pleiotropy; TBC1D24

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; SERINE; CARRIER PROTEIN; TBC1D24 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; COCHLEA; EPILEPSY; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; MALE; MENTAL DEFICIENCY; NAIL DYSTROPHY; OSTEODYSTROPHY; OTOSCOPE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEGREGATION ANALYSIS; SEIZURE; SEQUENCE ANALYSIS; TBC1D24 GENE; AMINO ACID SEQUENCE; CHEMISTRY; DOMINANT GENE; EXOME; GENE EXPRESSION; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; CARRIER PROTEINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION; GENES, DOMINANT; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 84901983388     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22557     Document Type: Article

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