A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

European Journal of Medical Genetics

Volumn 54, Issue 6, 2011, Pages

  Ben Saïd, Mariem ^a   Ayedi, Leila ^a   Mnejja, Melek ^b   Hakim, Bochra ^a   Khalfallah, Ayda ^a   Charfeddine, Ilhem ^b   Khifagi, Chamseddine ^a   Turki, Khalil ^b   Ayadi, Hammadi ^a   BenZina, Zeineb ^b   Ghorbel, Abdelmonem ^b   Castillo, Ignacio del ^c,d   Masmoudi, Saber ^a   Aifa, Mounira Hmani ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

DFNB35; ESRRB; Hearing loss; Mutation

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ESTROGEN RELATED RECEPTOR BETA GENE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; HEARING LOSS; HUMAN; LIGAND BINDING; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PROTEIN CONFORMATION; PROTEIN DOMAIN; TUNISIA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CONSANGUINITY; DNA FINGERPRINTING; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC LOCI; HEARING LOSS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, ESTROGEN; TUNISIA;

EID: 80052275996     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.008     Document Type: Article

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