Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic de...
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
About this item
Full title
Author / Creator
Riahi, Zied , Bonnet, Crystel , Zainine, Rim , Louha, Malek , Bouyacoub, Yosra , Laroussi, Nadia , Chargui, Mariem , Kefi, Rym , Jonard, Laurence , Dorboz, Imen , Hardelin, Jean-Pierre , Salah, Sihem Belhaj , Levilliers, Jacqueline , Weil, Dominique , McElreavey, Kenneth , Boespflug, Odile Tanguy , Besbes, Ghazi , Abdelhak, Sonia and Petit, Christine
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profoun...
Alternative Titles
Full title
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Authors, Artists and Contributors
Author / Creator
Bonnet, Crystel
Zainine, Rim
Louha, Malek
Bouyacoub, Yosra
Laroussi, Nadia
Chargui, Mariem
Kefi, Rym
Jonard, Laurence
Dorboz, Imen
Hardelin, Jean-Pierre
Salah, Sihem Belhaj
Levilliers, Jacqueline
Weil, Dominique
McElreavey, Kenneth
Boespflug, Odile Tanguy
Besbes, Ghazi
Abdelhak, Sonia
Petit, Christine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1978570856
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1978570856
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0099797
