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.

Archives de l'Institut Pasteur de Tunis

Volumn 84, Issue 1-4, 2007, Pages 65-70

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

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CONSANGUINITY; EXON; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESCHOOL CHILD; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TUNISIA;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GENETICS, POPULATION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TUNISIA;

EID: 65549170086     PISSN: 00202509     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)