Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

Clinical Genetics

Volumn 74, Issue 3, 2008, Pages 223-232

  Hilgert, N ^a   Alasti, F ^a,b   Dieltjens, N ^a   Pawlik, B ^c   Wollnik, B ^c   Uyguner, O ^d   Delmaghani, S ^e   Weil, D ^e   Petit, C ^e   Danis, E ^a   Yang, T ^f   Pandelia, E ^g   Petersen, M B ^g   Goossens, D ^a   Favero, J D ^a   Sanati, M H ^b   Smith, R J H ^f   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^c UNIVERSITY OF COLOGNE   (Germany)

^d ISTANBUL UNIVERSITY   (Turkey)

^e INSTITUT PASTEUR   (France)

^f UNIVERSITY OF IOWA   (United States)

^g AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

DFNA36; DFNB7 11; Sensorineural hearing loss; TMC1

Indexed keywords

DNA; MEMBRANE PROTEIN; PROTEIN TMC1; TRANSMEMBRANE CHANNEL LIKE PROTEIN 1;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; GENE LOCUS; GENETIC CODE; GENETIC LINKAGE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; GENE DOSAGE; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MUTATION;

EID: 49549121850     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01053.x     Document Type: Article

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