Author:
Lacerda L.,Amaral O.,Pinto R.,Aerts J.,S� Miranda M. C.
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Amaral O, Lacerda L, Santos R, Pinto R, Aerts J, S� Miranda MC (1993) Type I Gaucher disease: molecular, biochemical and clinical characterization of patients from Northern Portugal.Biochem Med Metab Biol 49: 97?107.
2. Barranger JA, Ginns EI (1989) Glucosylceramide lipidoses: Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1677?1698.
3. Beutler E (1992) Gaucher disease: new molecular approaches to diagnosis and treatment.Science 256: 794?799.
4. Beutler E, Gelbart T, West Q (1990) The facile detection of Nt1226 mutation of glucocerebrosidase by ?mismatched? PCR.Clin Chim Acta 194: 161?166.
5. Beutler E, Gelbart T, Kuhl W, Sorge J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Proc Natl Acad Sci USA 88: 10544?10547.
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