Molecular analysis of mucopolysaccharidosis type I in Tunisia: Identification of novel mutation and eight Novel polymorphisms

Diagnostic Pathology

Volumn 6, Issue 1, 2011, Pages

  Chkioua, Latifa ^a,b   Khedhiri, Souhir ^a,b   Kassab, Asma ^a,b   Bibi, Amina ^c   Ferchichi, Salima ^a,b   Froissart, Roseline ^d   Vianey Saban, Christine ^d   Laradi, Sandrine ^a,b   Miled, Abdelhedi ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c Biology Molecular laboratory Child Hospital   (Tunisia)

^d Center of biology and pathology   (France)

Author keywords

Mucopolysaccharidosis type IIDUA gene; Mutations; Polymorphisms; Tunisian patients

Indexed keywords

LEVO IDURONIDASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; FAMILY HEALTH; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; HURLER SYNDROME; INFANT; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; TUNISIA;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IDURONIDASE; INFANT; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; TUNISIA;

EID: 79958073298     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-6-39     Document Type: Article

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