Clinical utility gene card for: Diamond - Blackfan Anemia - update 2013

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1185-

  Vlachos, Adrianna ^a   Dahl, Niklas ^b   Dianzani, Irma ^c   Lipton, Jeffrey M ^a  

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b UPPSALA UNIVERSITY   (Sweden)

^c UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ 2; ALPHA CRYSTALLIN; ALPHA TROPOMYOSIN; ANKYRIN; CARDIAC MYOSIN; CONNECTIN; DELTA SARCOGLYCAN; DESMIN; DESMOGLEIN 2; DESMOPLAKIN; DYSTROPHIN; FUKUTIN; FUKUTIN RELATED PROTEIN; INTEGRIN LINKED KINASE; LAMIN A; LAMIN C; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MYOSIN HEAVY CHAIN ALPHA; MYOSIN HEAVY CHAIN BETA; PHOSPHOLAMBAN; PLAKOPHILIN; PRESENILIN 1; PRESENILIN 2; SUCCINATE DEHYDROGENASE; THIOREDOXIN REDUCTASE 2; THYMOPOIETIN; TROPONIN C; TROPONIN I; UNINDEXED DRUG; VINCULIN;

AUTOSOMAL DOMINANT INHERITANCE; CELL NUCLEUS MEMBRANE; CONGESTIVE CARDIOMYOPATHY; COST EFFECTIVENESS ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ETHNIC GROUP; FAMILY HISTORY; FIRST DEGREE RELATIVE; FOLLOW UP; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HEART CONDUCTION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL ACTIVITY; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; ANEMIA, DIAMOND-BLACKFAN; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; MUTATION; ARTICLE; BLACKFAN DIAMOND ANEMIA;

ANEMIA, DIAMOND-BLACKFAN; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION;

EID: 84884591769     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.34     Document Type: Note

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