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3. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Germain DP; Poenaru L Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848 [TBL] [Abstract][Full Text] [Related]
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17. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. Dobrovolny R; Dvorakova L; Ledvinova J; Magage S; Bultas J; Lubanda JC; Elleder M; Karetova D; Pavlikova M; Hrebicek M J Mol Med (Berl); 2005 Aug; 83(8):647-54. PubMed ID: 15806320 [TBL] [Abstract][Full Text] [Related]
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20. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]. Sakuraba H Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]