Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations

Author:

Drugan Cristina,Procopciuc Lucia,Jebeleanu Gheorghe,Grigorescu-Sido Paula,Dussau Jane,Poenaru Livia,Caillaud Catherine

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Beutler E, Grabowski GA . Gaucher disease in Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease 7th edn New York: McGraw-Hill 1995 pp 2641–2670

2. Grabowski GA, Horowitz M . Gaucher's disease: molecular, genetic and enzymological aspects in Zimran A (ed) Baillière's Clinical Haematology International Practice and Research: Gaucher's Disease Baillière Tindall 1997 vol 10 no 4: pp 635–656

3. Sidransky E, Bottler A, Stubblefield B, Ginns EI . DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat 1994 3: 25–28

4. Koprivika V, Stone DL, Park JK et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000 66: 1777–1786

5. Zimran A, Kay A, Gelbart T et al. Gaucher disease. Clinical, laboratory, radiologic and genetic features of 53 patients Medicine 1992 71: 337–353

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