Twin pairs showing discordance of phenotype in adult Gaucher's disease
Author:
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
http://academic.oup.com/qjmed/article-pdf/97/4/199/4373476/hch036.pdf
Reference27 articles.
1. Collodion babies with Gaucher's disease.
2. 5 Neuronopathic forms of Gaucher's disease
3. 3 Gaucher's disease: clinical features and natural history
4. PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL
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