Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)

Otology and Neurotology

Volumn 26, Issue 1, 2005, Pages 52-58

  Topsakal, Vedat ^a   Pennings, Ronald J E ^a   Te Brinke, Heleen ^a   Hamel, Ben ^a   Huygen, Patrick L M ^a   Kremer, Hannie ^a   Cremers, Cor W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DFNA2 KCNQ4; Genetic hearing impairment; Phenotypic characterization

Indexed keywords

ADULT; AGED; ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; COST CONTROL; DNA DETERMINATION; DNA ISOLATION; FAMILY STUDY; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KCNQ4 GENE; MALE; MISSENSE MUTATION; MORPHOLOGICAL TRAIT; ORAL BIOPSY; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; QUESTIONNAIRE; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AUDIOMETRY, PURE-TONE; CHILD; CHROMOSOME ABERRATIONS; CROSS-CULTURAL COMPARISON; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; GENOTYPE; HEARING LOSS, HIGH-FREQUENCY; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HUMANS; KCNQ POTASSIUM CHANNELS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NETHERLANDS; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS, VOLTAGE-GATED; PRESBYCUSIS; SEQUENCE ANALYSIS, DNA; STATISTICS;

EID: 12344264009     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200501000-00009     Document Type: Article

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