A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase a gene

Internal Medicine

Volumn 52, Issue 7, 2013, Pages 777-780

  Watanabe, Tohru ^a   Hanawa, Haruo ^a   Suzuki, Tomoyasu ^a   Jiao, Shuang ^a   Kaori, Yoshida ^a   Ogura, Minako ^a   Ohno, Yukako ^a   Hayashi, Yuka ^a   Ito, Masahiro ^a   Kashimura, Takeshi ^a   Obata, Hiroaki ^a   Sato, Akinori ^a   Ozawa, Takuya ^a   Kodama, Makoto ^a   Sakuraba, Hitoshi ^b   Minamino, Tohru ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

galactosidase A; Endomyocardial biopsy; Fabry disease; Intron; Ventricular tachycardia

Indexed keywords

ALPHA GALACTOSIDASE; GENOMIC DNA;

ACUTE HEART FAILURE; ADULT; ARTICLE; CARDIOMEGALY; CASE REPORT; FABRY DISEASE; GENE DELETION; HEART MUSCLE BIOPSY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; POINT MUTATION; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TACHYCARDIA; THORAX RADIOGRAPHY;

ALPHA-GALACTOSIDASE; FABRY DISEASE; GENE EXPRESSION REGULATION; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; RNA SPLICE SITES; RNA, MESSENGER;

EID: 84875894901     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.52.9213     Document Type: Article

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