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Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes

✍ Scribed by Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Toshika Okumiya; Hitoshi Sakuraba


Publisher
Springer
Year
2005
Tongue
English
Weight
436 KB
Volume
117
Category
Article
ISSN
0340-6717

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Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden