Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. [electronic resource]

By: Contributor(s): Producer: 20170417Description: 422-425 p. digitalISSN:
  • 1872-7131
Subject(s): Online resources: In: Brain & development vol. 39
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Publication Type: Case Reports; Journal Article

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