A novel compound heterozygous variant of ECHS1 identified...

Human Genome Variation 2019 / 12 Vol. 6; Iss. 1

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi
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Volume:
6
Language:
english
Journal:
Human Genome Variation
DOI:
10.1038/s41439-019-0050-1
Date:
December, 2019
File:
PDF, 584 KB
english, 2019
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