Sanfilippo syndrome type C: Mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Human Mutation

Volumn 30, Issue 6, 2009, Pages 918-925

  Feldhammer, Matthew ^a,b   Durand, Stéphanie ^a   Mrázová, Lenka ^c   Boucher, Renée Myriam ^e   Laframboise, Rachel ^e   Steinfeld, Robert ^f   Wraith, James E ^g   Michelakakis, Helen ^h   Van Diggelen, Otto P ⁱ   Hřebíček, Martin ^c   Kmoch, Stanislav ^c,d   Pshezhetsky, Alexey V ^a,b,j  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d CHARLES UNIVERSITY   (Czech Republic)

^e UNIVERSITÉ LAVAL   (Canada)

^f UNIVERSITY OF GÖTTINGEN   (Germany)

^g ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^h AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j MCGILL UNIVERSITY   (Canada)

more..

Author keywords

Heparan sulfate; HGSNAT; Lysosome; MPS IIIC; Mucopolysaccharidosis; Mutation analysis; N acetyltransferase; Sanfilippo syndrome type C

Indexed keywords

ACETYLGLUCOSAMINIDASE; GLUCOSAMINE; HEPARAN SULFATE; HEPARAN SULFATE ACETYL COENZYME A ALPHA GLUCOSAMINIDE N ACETYLTRANSFERASE; UNCLASSIFIED DRUG;

ACETYLATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DWARFISM; FACIES; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HGSNAT GENE; HUMAN; HYDROLYSIS; JOINT STIFFNESS; NERVE CELL NECROSIS; NERVE DEGENERATION; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; SANFILIPPO SYNDROME; SKELETON MALFORMATION;

ACETYLTRANSFERASES; AMINO ACID SEQUENCE; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS III; MUTATION;

EID: 66349117008     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20986     Document Type: Review

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