Author:
Topaloglu Ali K.,Ashley Grace A.,Tong Bingzheng,Shabbeer Junaid,Astrin Kenneth H.,Eng Christine M.,Desnick Robert J.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine
Reference14 articles.
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2. von Scheidt W, Eng CM, Fitzmaurice TF, et al. (1991) An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N. Engl. J. Med.324: 395–399.
3. Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ. (1986) Human α-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc. Natl. Acad. Sci. U.S.A.83: 4859–4863.
4. Kornreich R, Desnick RJ, Bishop DF. (1989) Nucleotide sequence of the human α-galactosidase A gene. Nucl. Acids Res.17: 3301–3302.
5. Eng CM, Niehaus DJ, Enriquez A, Burgett TS, Ludman MD, Desnick RJ. (1994) Fabry disease: twenty-three mutations including sense and anti-sense CpG alterations and identification of a deletion hot-spot in the α-galactosidase A gene. Hum. Mol. Genet.3: 1795–1799.
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