Article
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
PloS one - 1 Jan 2016
Abdi Samia, Bahloul Amel, Behlouli Asma, Hardelin Jean-Pierre, Makrelouf Mohamed, Boudjelida Kamel, Louha Malek, Cheknene Ahmed, Belouni Rachid, Rous Yahia, Merad Zahida, Selmane Djamel, Hasbelaoui Mokhtar, Bonnet Crystel, Zenati Akila, Petit Christine
Abstract excerpt
Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported. We studied the molecular bases of the disease in 18 unrelated Algerian patients by targeted-exome sequencing, and identified the causal biallelic mutations in all of them: 16 patients carried...
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