Human Genome Variation
SCOPUS (2014-2023)ESCI-ISI
2054-345X
Anh Quốc
Cơ quản chủ quản: Springer Nature , Nature Publishing Group
Lĩnh vực:
Molecular BiologyGeneticsBiochemistry
Các bài báo tiêu biểu
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndromeAbstract Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1 , which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese p... ...
Tập 6 Số 1