Identification of molecular defects in Italian Sanfilippo a patients including 13 novel mutations

Human Mutation

Volumn 11, Issue 4, 1998, Pages 313-320

  Di Natale, Paola ^a   Balzano, Nicola ^a   Esposito, Sabrina ^a   Villani, Guglielmo R D ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

MPS IIIA; Sanfilippo A; Sulfamidase gene

Indexed keywords

AGGRESSION; ARTICLE; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DEMENTIA; DEVELOPMENTAL DISORDER; GENE DELETION; GENE MUTATION; HUMAN; HYPERACTIVITY; ITALY; LYSOSOME STORAGE DISEASE; MOLECULAR GENETICS; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA RESTRICTION ENZYMES; FOUNDER EFFECT; GENOTYPE; HUMANS; HYDROLASES; ITALY; MUCOPOLYSACCHARIDOSIS III; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

ILIA;

EID: 0031956682     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P     Document Type: Article

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