Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Human mutation

Volumn 28, Issue 5, 2007, Pages 523-

  Fedele, Anthony Olind ^a   Filocamo, Mirella ^a   Di Rocco, Maja ^a   Sersale, Giovanna ^a   Lübke, Torben ^a   di Natale, Paola ^a   Cosma, Maria Pia ^a   Ballabio, Andrea ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; HGSNAT PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; FEMALE; GENETICS; HUMAN; INFANT; ITALY; MALE; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SANFILIPPO SYNDROME;

ACETYLTRANSFERASES; ALLELES; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; ITALY; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION;

EID: 34250622878     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9488     Document Type: Article

References (0)