Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 525, Issue 1-2, 2003, Pages 121-124

  Kunz, Jürgen ^a   Marquez Klaka, Ben ^a   Uebe, Steffen ^a   Volz Peters, Anja ^a   Berger, Roswitha ^a   Rausch, Peter ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

DFNA6 DFNA14; LFSNHI; Low frequency sensorineural hearing impairment; Mutation analysis; WFS1; Wolframin

Indexed keywords

PROTEIN; PROTEIN WFS1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 4P; CONTROLLED STUDY; GENE LOCUS; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; HUMAN GENOME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; WOLFRAM SYNDROME;

FEMALE; GERMANY; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, GENETIC; WOLFRAM SYNDROME;

EID: 0037427209     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(02)00265-8     Document Type: Article

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