Clinical and genetic investigation of a Japanese family with cardiac fabry disease: Identification of a novel α-galactosidase a missense mutation (G195V)

International Heart Journal

Volumn 52, Issue 5, 2011, Pages 308-311

  Nakagawa, Naoki ^a   Maruyama, Hiroki ^b   Ishihara, Takayuki ^b   Seino, Utako ^b   Kawabe, Jun ichi ^a   Takahashi, Fumihiko ^c   Kobayashi, Motoi ^a   Yamauchi, Atsushi ^a   Sasaki, Yukie ^a   Sakamoto, Naka ^a   Ota, Hisanobu ^a   Tanabe, Yasuko ^a   Takeuchi, Toshiharu ^a   Takenaka, Toshihiro ^d   Kikuchi, Kenjiro ^a   Hasebe, Naoyuki ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

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

^c Department of Internal Medicine   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Glycosphingolipid deposition; Hereditary cardiovascular diseases; Left ventricular hypertrophy

Indexed keywords

ACETYLCHOLINE; ALPHA GALACTOSIDASE; AMINO TERMINAL PRO BRAIN NATRIURETIC PEPTIDE; GADOLINIUM; GENOMIC DNA; GLYCINE; ISOSORBIDE DINITRATE; VALINE;

ADULT; ALPHA GALACTOSIDASE A GENE; AMINO ACID SUBSTITUTION; ANGINA PECTORIS; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTRAST ENHANCEMENT; CONTROLLED STUDY; CORONARY ARTERY OBSTRUCTION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME ANALYSIS; EXON; FABRY DISEASE; FAMILIAL DISEASE; FEMALE; GENE; GENETIC ASSOCIATION; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HEART RIGHT BUNDLE BRANCH BLOCK; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRACORONARY INFUSION; JAPANESE; LEUKOCYTE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ST SEGMENT ELEVATION; T WAVE INVERSION; VASOSPASM;

ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; BUNDLE-BRANCH BLOCK; CORONARY ANGIOGRAPHY; CORONARY VASOSPASM; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXONS; FABRY DISEASE; FEMALE; GENOTYPE; GLYCINE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUTATION, MISSENSE; MYOCARDIUM; NATRIURETIC PEPTIDE, BRAIN; PEDIGREE; PEPTIDE FRAGMENTS; SIGNAL PROCESSING, COMPUTER-ASSISTED; VALINE; YOUNG ADULT;

EID: 80054748417     PISSN: 13492365     EISSN: 13493299     Source Type: Journal    
DOI: 10.1536/ihj.52.308     Document Type: Article

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