Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies
Lommel, M., Cirak, S., Willer, T., Hermann, R., Uyanik, G., van Bokhoven, H.
, Körner, C., Voit, T., Barić, I., Hehr, U. and Strahl, S.
(2010)
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
Neurology 74 (2), pp. 157-164.
Date of publication of this fulltext: 19 Dec 2024 11:40
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| Item type | Article | ||||
| Journal or Publication Title | Neurology | ||||
| Publisher: | LIPPINCOTT WILLIAMS & WILKINS | ||||
|---|---|---|---|---|---|
| Place of Publication: | PHILADELPHIA | ||||
| Volume: | 74 | ||||
| Number of Issue or Book Chapter: | 2 | ||||
| Page Range: | pp. 157-164 | ||||
| Date | 2010 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | WALKER-WARBURG-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHIES; PROTEIN O-MANNOSYLATION; DEFECTIVE GLYCOSYLATION; POMT2 MUTATIONS; ALPHA-DYSTROGLYCAN; MENTAL-RETARDATION; GENE; HYPOGLYCOSYLATION; FAMILY; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 66470 |
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