Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9307-7
Reference16 articles.
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2. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ (2010) Type I Gaucher disease: Significant disease manifestations in “asymptomatic” homozygotes. Arch Intern Med 170:1463–1469
3. Beutler E, Liebman H, Gelbart T, Stefanski E (2000) Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications. Acta Haematol 104:103–105
4. Eng CM, Schechter C, Robinowitz J et al (1997) Prenatal genetic carrier testing using triple disease screening. JAMA 278:1268–1272
5. Eyal N, Wilder S, Horowitz M (1990) Prevalent and rare mutations among Gaucher patients. Gene 96:277–283
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