Aspartylglucosaminuria caused by a novel homozygous...

Brain and Development 2017 / 05 Vol. 39; Iss. 5

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

Yamamoto, Toshiyuki, Shimojima, Keiko, Matsufuji, Mayumi, Mashima, Ryuichi, Sakai, Eri, Okuyama, Torayuki
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Volume:
39
Language:
english
Journal:
Brain and Development
DOI:
10.1016/j.braindev.2016.12.004
Date:
May, 2017
File:
PDF, 718 KB
english, 2017
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