Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme α-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which a...
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| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
17 March 2005
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| In: |
Human mutation
Year: 2005, Jahrgang: 25, Heft: 4, Pages: 412-418 |
| ISSN: | 1098-1004 |
| DOI: | 10.1002/humu.9327 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1002/humu.9327 Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9327 
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| Verfasserangaben: | Ellen Schäfer, Karin Baron, Urs Widmer, Patrick Deegan, Hartmut P.H. Neumann, Gere Sunder‐Plassmann, Jan-Ove Johansson, Catharina Whybra, Markus Ries, Gregory M. Pastores, Atul Mehta, Michael Beck, and Andreas Gal |
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| 520 | |a Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme α-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which are reported for the first time here. Both point mutations (74.4%) and ‘short length’ rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients. © 2005 Wiley-Liss, Inc. | ||
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| 650 | 4 | |a lysosomal enzyme | |
| 650 | 4 | |a storage disorder | |
| 650 | 4 | |a α-galactosidase A | |
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