Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: Two novel mutations in the HGSNAT gene

Clinical Genetics

Volumn 74, Issue 2, 2008, Pages 194-195

  Coutinho, Maria Francisca de Lima Magriço ^a   Lacerda, L ^a   Prata, M J ^b   Ribeiro, H ^a   Lopes, L ^a   Ferreira, C ^a   Alves, S ^a  

^a Centro de Genética Médica Jacinto Magalhães ^*  (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; HEPARAN SULFATE;

CASE REPORT; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; HUMAN; LETTER; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PORTUGAL; PRIORITY JOURNAL; PROTEIN FUNCTION; SANFILIPPO SYNDROME; SEQUENCE ANALYSIS; STOP CODON;

ACETYLTRANSFERASES; EPIDEMIOLOGY, MOLECULAR; FRAMESHIFT MUTATION; HUMANS; MUCOPOLYSACCHARIDOSIS III; MUTATION; POINT MUTATION; PORTUGAL; RNA SPLICE SITES;

EID: 47149104724     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01040.x     Document Type: Letter

References (7)

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