A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Tsai, Hsun Tien ^a,b   Wang, Ying Piao ^a   Chung, Shing Fang ^a   Lin, Hung Ching ^a,b   Ho, Guan Min ^a   Shu, Min Tsan ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL TAIPEI UNIVERSITY OF NURSING AND HEALTH SCIENCES   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; UNCLASSIFIED DRUG; WOLFRAM SYNDROME PROTEIN 1; MEMBRANE PROTEIN; WOLFRAMIN PROTEIN;

ACOUSTIC IMPEDANCE; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC TRAIT; HEARING TEST; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PENETRANCE; PERCEPTION DEAFNESS; PHENOTYPE; PURE TONE AUDIOMETRY; SEQUENCE ANALYSIS; TAIWAN; FAMILY HEALTH; GENETICS; HETEROZYGOTE; PEDIGREE; WOLFRAM SYNDROME;

DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TAIWAN; WOLFRAM SYNDROME;

EID: 34250656968     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-26     Document Type: Article

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