Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

Clinica Chimica Acta

Volumn 412, Issue 23-24, 2011, Pages 2326-2331

  Ouesleti, S ^a,d   Brunel, V ^b   Turkia, H Ben ^c   Dranguet, H ^b   Miled, A ^a   Miladi, N ^d   Dridi, M F Ben ^c   Lavoinne, A ^b   Saugier Veber, P ^b   Bekri, S ^b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITÉ DE ROUEN   (France)

^c LA RABTA HOSPITAL   (Tunisia)

^d UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

Author keywords

Large scale deletion; Mutation; QMPSF; Sanfilippo disease

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA FRAGMENTATION; ETHNIC GROUP; EXON; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC SCREENING; HGSNAT GENE; HUMAN; MALE; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; MUTATOR GENE; NAGLU GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE A; SANFILIPPO SYNDROME TYPE B; SANFILIPPO SYNDROME TYPE C; SEQUENCE ANALYSIS; SGSH GENE; START CODON; TUNISIAN;

CHILD, PRESCHOOL; HUMANS; MUCOPOLYSACCHARIDOSES; POLYMERASE CHAIN REACTION; TUNISIA;

EID: 80053620484     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.08.032     Document Type: Article

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