[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].

Cherif, W; Ben Turkia, H; Tebib, N; Amaral, O; Ben Rhouma, F; Abdelmoula, M S; Azzouz, H; Caillaud, C; Sà Miranda, M-C; Abdelhak, S; Ben Dridi, M-F

[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous]. / Spectre mutationnel de la maladie de Gaucher en Tunisie: forte fréquence des hétérozygotes composites N370S/Rec NciI.

Cherif, W; Ben Turkia, H; Tebib, N; Amaral, O; Ben Rhouma, F; Abdelmoula, M S; Azzouz, H; Caillaud, C; Sà Miranda, M-C; Abdelhak, S; Ben Dridi, M-F.

Affiliation

Cherif W; Unité 26/04 d'Exploration Moléculaire des Maladies Orphelines d'Origine Génétique, Institut Pasteur de Tunis, Tunisie.

Arch Inst Pasteur Tunis ; 84(1-4): 65-70, 2007.

Article in Fr | MEDLINE | ID: mdl-19388585

Subject(s)

Gaucher Disease; Gene Frequency/genetics; Mutation/genetics; Adolescent; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Exons/genetics; Female; Gaucher Disease/epidemiology; Gaucher Disease/genetics; Genetic Carrier Screening; Genetic Counseling; Genetic Testing; Genetics, Population; Heterozygote; Humans; Male; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Tunisia/epidemiology

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Collection: 01-internacional Database: MEDLINE Main subject: Gaucher Disease / Gene Frequency / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Africa Language: Fr Journal: Arch Inst Pasteur Tunis Year: 2007 Document type: Article Affiliation country: Tunisia

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