Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: Identification of six novel alleles

Neurogenetics

Volumn 10, Issue 1, 2009, Pages 49-58

  Zampieri, Stefania ^a   Filocamo, Mirella ^b   Buratti, Emanuele ^c   Stroppiano, Marina ^b   Vlahovicek, Kristian ^d   Rosso, Natalia ^e   Bignulin, Eleonora ^a   Regis, Stefano ^b   Carnevale, Franco ^f   Bembi, Bruno ^g   Dardis, Andrea ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^d UNIVERSITY OF ZAGREB   (Croatia)

^e Centro Studi Fegato   (Italy)

^f Ospedale Pediatrico Giovanni XXIII   (Italy)

^g SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

GM2 gangliosidosis; HEXB gene; Mutation analysis; Sandhoff disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE B;

ALLELE; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; HAPLOTYPE; HUMAN; HUMAN CELL; ITALY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANDHOFF DISEASE;

ALLELES; BASE SEQUENCE; BETA-HEXOSAMINIDASE BETA CHAIN; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; ITALY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SANDHOFF DISEASE;

EID: 58649092359     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0145-1     Document Type: Article

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