Sequence and copy number analyses of HEXB gene in patients affected by sandhoff disease: Functional characterization of 9 novel sequence variants

PLoS ONE

Volumn 7, Issue 7, 2012, Pages

  Zampieri, Stefania ^a   Cattarossi, Silvia ^a   Ramirez, Ana Maria ^b   Rosano, Camillo ^c   Lourenco, Charles Marques ^d   Passon, Nadia ^e   Moroni, Isabella ^f   Uziel, Graziella ^f   Pettinari, Antonella ^g   Stanzial, Franco ^h   de Kremer, Raquel Dodelson ^b   Azar, Nydia Beatriz ^b   Hazan, Filiz ⁱ   Filocamo, Mirella ^j   Bembi, Bruno ^a   Dardis, Andrea ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b University of Córdoba   (Argentina)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e UNIVERSITY OF UDINE   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g OSPEDALI RIUNITI   (Italy)

^h Servizio di Consulenza Genetica   (Italy)

ⁱ Faculty of Medicine   (Turkey)

^j G GASLINI INSTITUTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE B;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEXB GENE; HUMAN; HUMAN CELL; IN VITRO STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; PROTEIN FUNCTION; RNA PROCESSING; SANDHOFF DISEASE;

ALTERNATIVE SPLICING; BASE SEQUENCE; BETA-HEXOSAMINIDASE BETA CHAIN; FEMALE; HEK293 CELLS; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; RNA, MESSENGER; SANDHOFF DISEASE; SEQUENCE DELETION;

EID: 84864417054     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0041516     Document Type: Article

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