Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Riahi, Zied ^a,b   Bonnet, Crystel ^c   Zainine, Rim ^d   Louha, Malek ^e   Bouyacoub, Yosra ^a   Laroussi, Nadia ^a,b   Chargui, Mariem ^a   Kefi, Rym ^a   Jonard, Laurence ^e   Dorboz, Imen ^f   Hardelin, Jean Pierre ^g   Salah, Sihem Belhaj ^d   Levilliers, Jacqueline ^g   Weil, Dominique ^g   McElreavey, Kenneth ^g   Boespflug, Odile Tanguy ^f   Besbes, Ghazi ^d   Abdelhak, Sonia ^a,b   Petit, Christine ^c,g  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b FACULTÉ DES SCIENCES DE TUNIS   (Tunisia)

^c Institut Pasteur   (France)

^d LA RABTA HOSPITAL   (Tunisia)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f INSERM   (France)

^g INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; CONNEXIN 26; GAP JUNCTION PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONSANGUINITY; COST BENEFIT ANALYSIS; ETHNIC GROUP; EXOME; FAMILY HISTORY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; INDEL MUTATION; LRTOMT GENE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYO15A GENE; NON SYNDROMIC DEAFNESS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; SEQUENCE ANALYSIS; TMC1 GENE; TUNISIAN; TWO SPLICE SITE MUTATION; WHOLE EXOME SEQUENCING; GENETICS; HEARING IMPAIRMENT; MUTATION; PEDIGREE; PERCEPTION DEAFNESS;

CONNEXINS; DEAFNESS; EXOME; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 84902820696     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0099797     Document Type: Article

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