Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

Journal of Cardiology

Volumn 57, Issue 3, 2011, Pages 345-353

  Yoshimitsu, Makoto ^a   Higuchi, Koji ^a   Miyata, Masaaki ^a   Devine, Sean ^b   Mattman, Andre ^c   Sirrs, Sandra ^c   Medin, Jeffrey A ^b,d   Tei, Chuwa ^a   Takenaka, Toshihiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b UNIVERSITY OF TORONTO   (Canada)

^c VANCOUVER GENERAL HOSPITAL   (Canada)

^d PRINCESS MARGARET HOSPITAL   (Canada)

Author keywords

Galactosidase A; Cardiac Fabry disease; Fabry disease; GLA mutations; MLPA; Mutation analysis

Indexed keywords

ALPHA GALACTOSIDASE; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ADULT; AGED; ALPHA GALACTOSIDASE A GENE; ALU SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; HEART LEFT VENTRICLE HYPERTROPHY; HEMIZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; SPLICING DEFECT;

ADULT; AGED; ALPHA-GALACTOSIDASE; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DNA, COMPLEMENTARY; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; RNA; SEQUENCE ANALYSIS, DNA;

EID: 79955000143     PISSN: 09145087     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jjcc.2010.12.004     Document Type: Article

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