Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

Author:

Abdi Samia,Makrelouf Mohamed,Rous Issa Nazim,Ounnoughi Kheireddine,Zenati Akila,Petit Christine,Bonnet Crystel

Publisher

Elsevier BV

Reference42 articles.

1. Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4;Abad-Morales;Am. J. Ophthalmol. Case Rep.,2020

2. The Usher syndrome type IIIB histidyl-tRNA synthetase mutation confers temperature sensitivity;Abbott;Biochemistry,2017

3. Diversity of the genes implicated in Algerian patients affected by Usher syndrome;Abdi;PloS One,2016

4. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

5. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F;Ammar-Khodja;Eur. J. Med. Genet.,2009

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