Novel Frameshift Mutation in a Heterozygous Woman with Fabry Disease and End-Stage Renal Failure

American Journal of Nephrology - Tập 16 Số 4 - Trang 352-357 - 1996
Ann Van Loo1, Raymond Vanholder1, Kirsten Madsen2, Marleen Praet3, J. Kint4, Ann De Paepe5, Ludwine Messiaen5, Norbert Lameire1, Lis Hasholt2, Sven A. S oslash rensen, S Ringoir1
1Nephrology
2Institute of Medical Genetics, The Panum Institute, Copenhagen, Denmark
3Pathology
4Pediatrics, and
5Genetics, University Hospital, Gent, Belgium

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