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Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,...

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Bibliografiske detaljer
Main Authors: Pierides, A M, Holti, G, Crombie, A L, Roberts, D F, Gardiner, S E, Colling, A, Anderson, J
Format: Artigo
Sprog:Inglês
Udgivet: 1976
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013470/
https://ncbi.nlm.nih.gov/pubmed/828204
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