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Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene |
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| Authors: | Annukka Isoniemi Marja Hietala Pertti Aula Anu Jalanko Leena Peltonen |
| Abstract: | |
| Keywords: | Exon specific primers Deletion mutation Premature stop codon AGUFin minor |