Mucopolysaccharidosis type I: Molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

Diagnostic Pathology

Volumn 6, Issue 1, 2011, Pages

  Chkioua, Latifa ^a,b   Khedhiri, Souhir ^a,b   Turkia, Hadhami B ^c   Tcheng, Rémy ^d   Froissart, Roseline ^d   Chahed, Henda ^a,b   Ferchichi, Salima ^a,b   Ben Dridi, Marie F ^c   Vianey Saban, Christine ^d   Laradi, Sandrine ^a,b   Miled, Abdelhedi ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c LA RABTA HOSPITAL   (Tunisia)

^d Center of biology and pathology   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; CHILD; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENETICS; GENOTYPE; HUMAN; HURLER SYNDROME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; TUNISIA;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; IDURONIDASE; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION, MISSENSE; TUNISIA;

EID: 79957828625     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-6-47     Document Type: Article

References (27)

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