Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Author:

Kirkilionis A J,Riddell D C,Spence M W,Fenwick R G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Fabry's disease: a-galactosidase deficiency; Schindler disease: a-N-acetyl galactosaminidase deficiency;Desnick, R.J.; Bishop, D.F.,1989

2. Fabry's disease: glycosphingolipid lipidoses;Sweeley, C.C.; Klionsky, B.; Krivit, W.; Desnick, R.J.,1972

3. Regional localization of a-galactosidase (GLA) to Xpter--q22, hexosaminidase B (HEXB) to 15ql3--qter, and arylsulfatase B (ARSB) to Spter-+ql3;Fox, M.F.; Dutoit, D.T.; Warnich, L.; RetiefAF;Cytogenet Cell Genet,1984

4. Anderson Fabry disease. Close linkage with highly polymorphic DNA markers DXS17, DXS87, and DXS88;MacDermot, K.D.; Morgan, S.H.; Cheshire, J.K.; Wilson, T.A.;Hun Genet,1987

5. Subregional localization of anonymous Xq DNA probe by deletion mapping;Yang, H.M.; Niebuhr, E.; Norky, S.; Lund, T.; Schwartz, M.;Cytogenet CeU Genet,1988

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