A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Bramhall, Naomi F ^a   Kallman, Jeremy C ^a   Verrall, Aimee M ^a   Street, Valerie A ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENE PRODUCT; GUANINE; MYOSIN VIIA; WOLFRAMIN; MEMBRANE PROTEIN; MICROSATELLITE DNA; WOLFRAMIN PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY SYSTEM EXAMINATION; CARBOXY TERMINAL SEQUENCE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; ELECTROCOCHLEOGRAPHY; EVOKED AUDITORY RESPONSE; EXON; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC LINKAGE; HEREDITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYDROPHILICITY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; SEQUENCE ANALYSIS; UNITED STATES; ADOLESCENT; ADULT; AGED; CHILD; COCHLEA; DOMINANT GENE; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FEMALE; GENETICS; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; PROTEIN FOLDING; VESTIBULAR TEST;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COCHLEA; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EVOKED POTENTIALS, AUDITORY; EVOKED POTENTIALS, MOTOR; EXONS; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE PROTEINS; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN FOLDING; VESTIBULAR FUNCTION TESTS;

EID: 45749115837     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-48     Document Type: Article

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