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Genetics of Hunter Syndrome: carrier detection, new mutations, segregation and linkage analysis

✍ Scribed by D. S. CHASE; A. H. MORRIS; A. BALLABIO; S. PEPPER; F. GIANNELLI; M. ADINOLFI

Book ID
115249197
Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
813 KB
Volume
50
Category
Article
ISSN
0003-4800

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Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme ␣-galactosidase A (␣-Gal A). Affected males are reliably diagnosed by demonstration of deficient ␣-Gal A activity in plasma or leukocytes. However, identification of female carriers is probl