Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

Human Mutation

Volumn 37, Issue 1, 2016, Pages 43-51

  Lukas, Jan ^a   Scalia, Simone ^b   Eichler, Sabrina ^c   Pockrandt, Anne Marie ^a   Dehn, Nicole ^a   Cozma, Claudia ^c   Giese, Anne Katrin ^a   Rolfs, Arndt ^a,c  

^a UNIVERSITY OF ROSTOCK   (Germany)

^b CNR Consiglio Nazionale delle Ricerche   (Italy)

^c CENTOGENE AG   (Germany)

Author keywords

Fabry disease; GLA; GVUS; Pharmacological chaperone therapy; Variants of unknown significance

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; BLOOD SAMPLING; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEK293 CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PHASE 3 CLINICAL TRIAL; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; TRANSIENT EXPRESSION; YOUNG ADULT; ADOLESCENT; AMINO ACID SUBSTITUTION; CELL LINE; CHILD; ENZYME ACTIVATION; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; CELL LINE; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; ENZYME ACTIVATION; FABRY DISEASE; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84954400074     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22910     Document Type: Article

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