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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
Kang, Eungu, Kim, Taeho, Oh, Arum, Yum, Mi-Sun, Keum, Changwon, Yoo, Han-Wook, Lee, Beom HeeLanguage:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/s10038-019-0657-6
Date:
August, 2019
File:
PDF, 639 KB
english, 2019