Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the α-galactosidase A protein

Human Heredity

Volumn 57, Issue 3, 2004, Pages 138-141

  Dominissini, Silvia ^a   Cariati, Roberta ^a   Nevyjel, Marco ^a   Guerci, Veronica ^a   Ciana, Giovanni ^a   Bembi, Bruno ^a   Pittis, Maria Gabriela ^a  

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

Author keywords

Alpha galactosidase A; Cardiac variant; Classic Fabry disease; Missense mutation; Q279

Indexed keywords

ALPHA GALACTOSIDASE; GLUTAMINE;

ARTICLE; CASE REPORT; CHILD; COMPARATIVE STUDY; ENZYME ACTIVITY; EXON; FABRY DISEASE; FAMILY HISTORY; GENE MUTATION; HUMAN; LYMPHOCYTE; MALE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; WESTERN BLOTTING; WILD TYPE;

ALPHA-GALACTOSIDASE; ANIMALS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DNA PRIMERS; FABRY DISEASE; GENE EXPRESSION; GLUTAMINE; HUMANS; INFANT; LYMPHOCYTES; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 4344575804     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000079244     Document Type: Article

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