Clinical, biologic and molecular characteristics of two tunisian MPS IV a patients;Étude de la maladie de Morquio a dans une famille tunisienne présentant deux enfants atteints

Annales de Biologie Clinique

Volumn 65, Issue 1, 2007, Pages 59-63

  Khedhiri, S ^a,b   Chkioua, L ^a,b   Ferchichi, S ^a,b   Bouzidi, H ^a,b   Haj Khelil, A ^b   Ben Mansour, R ^a,b   Kassab, A ^a   M'Dallah, S ^a   Chaabouni, M ^c   Jrad, T ^d   Ben Chibani, J ^b   Miled, A ^a,b   Laradi, S ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c HEDI CHAKER HOSPITAL   (Tunisia)

^d CHU M'Saken   (Tunisia)

Author keywords

GALNS; Inherited metabolic disease; Keratane sulfate; Mucopolysaccharidosis IV A; Sequencing; Splicing mutation

Indexed keywords

GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CONSANGUINITY; DNA SEQUENCE; FEMALE; GENETICS; GENOTYPE; HUMAN; MALE; MUCOPOLYSACCHARIDOSIS; MUTATION; PHENOTYPE; SIBLING; TUNISIA;

ADOLESCENT; CHONDROITINSULFATASES; CONSANGUINITY; FEMALE; GENOTYPE; HUMANS; MALE; MUCOPOLYSACCHARIDOSES; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SIBLINGS; TUNISIA;

EID: 34147172241     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: 10.1684/abc.2007.0025     Document Type: Article

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