Molecular analysis of Sanfilippo syndrome type C in Spain: Seven novel HGSNAT mutations and characterization of the mutant alleles

Clinical Genetics

Volumn 80, Issue 4, 2011, Pages 367-374

  Canals, I ^a,b   Elalaoui, S C ^c   Pineda, M ^b,d   Delgadillo, V ^b,d   Szlago, M ^e   Jaouad, I C ^c   Sefiani, A ^c,f   Chabas A ^b,g   Coll, M J ^b,g   Grinberg, D ^a,b   Vilageliu, L ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUT NATIONAL D HYGIÈNE   (Morocco)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e Hospital Sant Joan de Déu ^*  (Argentina)

^f MOHAMMED V UNIVERSITY   (Morocco)

^g HOSPITAL CLÍNIC   (Spain)

Author keywords

Haplotype analysis; Heterologous expression; HGSNAT gene; Mucopolysaccharidosis IIIC; Mutations

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARGENTINA; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE; GENE EXPRESSION; HAPLOTYPE; HGSNAT GENE; HUMAN; MALE; MISSENSE MUTATION; MOROCCO; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; SPLICING DEFECT;

ACETYLTRANSFERASES; ALLELES; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENE EXPRESSION; HAPLOTYPES; HUMANS; INTRONS; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; SPAIN;

EID: 80052618375     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01525.x     Document Type: Article

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