Gaucher disease: Variability in phenotype among siblings-Reference-Cited by-同舟云学术

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Gaucher disease: Variability in phenotype among siblings

Published:2004-09 Issue:5 Volume:27 Page:659-669
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Amato D.¹,Stachiw T.²,Clarke J. T. R.³,Rivard G. E.⁴

Affiliation:

1. ; University of Toronto Faculty of Medicine and Mount Sinai Hospital; Toronto Ontario Canada

2. ; Jagellionian University Medical School; Krakow Poland

3. ; Mount Sinai Hospital, 600 University Avenue; Toronto Ontario Canada M5G 1X5. E-mail

4. ; University of Montreal and Hôpital Ste-Justine; Montreal Quebec Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000042983.60840.f3/fullpdf

Reference12 articles.

1. Discrepancies between genotype and phenotype in hematology: an important frontier;Beutler;Blood,2001

2. Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario;Clarke;CMAJ,2001

3. Exhaustive screening of the acid b-glucosidse gene, by £uorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease;Germain;Am J Hum Genet,1998

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