Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
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| Description | scientific article |
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author: Ryuichi Mashima Torayuki Okuyama Keiko Shimojima Mayumi Matsufuji Eri Sakai |
| Publication date | January 4, 2017 |
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