Functional analysis of 11 novel GBA alleles

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 511-516

  Malini, Erika ^a   Grossi, Serena ^b   Deganuto, Marta ^a   Rosano, Camillo ^c   Parini, Rossella ^d   Dominisini, Silvia ^a   Cariati, Roberta ^a   Zampieri, Stefania ^a   Bembi, Bruno ^a   Filocamo, Mirella ^b   Dardis, Andrea ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d SAN GERARDO HOSPITAL   (Italy)

Author keywords

Gaucher disease; GBA mutations and variants; Structural functional analysis

Indexed keywords

MESSENGER RNA;

ACID BETA GLUCOSIDASE GENE; ALLELE; ARTICLE; ENZYME ACTIVITY; GENE; GENE MUTATION; GENE STRUCTURE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SYNTHESIS;

ALLELES; CELL LINE; GAUCHER DISEASE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION, MISSENSE; PROTEIN CONFORMATION; RNA SPLICE SITES;

EID: 84896544969     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.182     Document Type: Article

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