Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the α-galactosidase a gene

Authors :: C. Craciun
V. Tibre
R.H. Lekanne Deprez
Ina Maria Kacso
S. Pops
V. Todea
C. Spanu
C. Nita
Ben J. H. M. Poorthuis
C. Drugan
Source :: Clinical Therapeutics. 29:S26-S26
Publication Year :: 2007
Publisher :: Elsevier BV, 2007.

Subjects :: Pharmacology
α galactosidase a
business.industry
Medicine
Pharmacology (medical)
business
medicine.disease
Fabry disease
Phenotype
Gene
Novel mutation
Molecular biology

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