High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 3, 2010, Pages 307-311

  Saïd, Mariem Ben ^a   Hmani Aifa, Mounira ^a   Amar, Imen ^a,b   Baig, Shahid Mahmood ^c   Mustapha, Mirna ^d,e   Delmaghani, Sedigheh ^f   Tlili, Abdelaziz ^a   Ghorbel, Abdelmonem ^g   Ayadi, Hammadi ^a   Van Camp, Guy ^h   Smith, Richard J H ⁱ   Tekin, Mustafa ^j,k   Masmoudi, Saber ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b UNIVERSITY OF SCIENCES AND TECHNOLOGY HOUARI BOUMEDIENE   (Algeria)

^c NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f INSERM   (France)

^g HABIB BOURGUIBA HOSPITAL   (Tunisia)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ UNIVERSITY OF IOWA HEALTH CARE   (United States)

^j ANKARA UNIVERSITY   (Turkey)

^k UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

ALGERIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; FOUNDER EFFECT; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC MARKER; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEARING LOSS; HUMAN; IRAN; IRAQ; LEBANON; MUTATIONAL ANALYSIS; NONSYNDROMIC HEARING LOSS; NUCLEOTIDE SEQUENCE; PAKISTAN; POLYMERASE CHAIN REACTION; POPULATION GENETIC PARAMETERS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSMEMBRANE CHANNEL LIKE GENE 1; TUNISIA; TURKEY (REPUBLIC); AFRICA; ASIA; GENETICS; HEARING IMPAIRMENT; MUTATION; RECESSIVE GENE;

MEMBRANE PROTEIN; TMC1 PROTEIN, HUMAN;

AFRICA, NORTHERN; ASIA, WESTERN; FOUNDER EFFECT; GENE FREQUENCY; GENES, RECESSIVE; HEARING LOSS; HUMANS; MEMBRANE PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 77954912153     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0174     Document Type: Article

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