A systematic review on screening for fabry disease: Prevalence of individuals with genetic variants of unknown significance

Journal of Medical Genetics

Volumn 51, Issue 1, 2014, Pages 1-9

  Van Der Tol, L ^a   Smid, B E ^a   Poorthuis, B J H M ^a   Biegstraaten, M ^a   Deprez, R H Lekanne ^a   Linthorst, G E ^a   Hollak, C E M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

EMBASE; FABRY DISEASE; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; MEDLINE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SCREENING; SYSTEMATIC REVIEW;

FABRY DISEASE; GENETIC TESTING; MASS SCREENING; NEONATAL SCREENING; PREVALENCE;

ALPHA-GALACTOSIDASE; FABRY DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; INFANT, NEWBORN; PREVALENCE;

EID: 84890880686     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101857     Document Type: Review

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