Founder mutations in Tunisia: Implications for diagnosis in North Africa and Middle East

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Romdhane, Lilia ^a   Kefi, Rym ^a   Azaiez, Hela ^a   Halim, Nizar Ben ^a   Dellagi, Koussay ^b,c   Abdelhak, Sonia ^a  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b GIS CRVOI   (France)

^c INSTITUT DE RECHERCHE POUR LE DÉVELOPPEMENT   (France)

Author keywords

Common haplotype; Diagnosis; Ethnicity; Founder mutations; Middle East; Mutation screening; North Africa; Rare genetic disorders; Tunisia

Indexed keywords

COST EFFECTIVENESS ANALYSIS; EPIDERMOLYSIS BULLOSA; FOUNDER MUTATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; MEDLINE; MIDDLE EAST; MOLECULAR DIAGNOSIS; MUSCULAR DYSTROPHY; RECESSIVE GENE; REVIEW; SPASTIC PARAPLEGIA; TUNISIA; XERODERMA PIGMENTOSUM;

AFRICA, NORTHERN; FOUNDER EFFECT; HUMANS; MIDDLE EAST; MUTATION; TUNISIA;

EID: 84865206213     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-52     Document Type: Review

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