Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

Molecular Genetics and Metabolism Reports Volume 33 published_at 2022-11-14
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Title
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype
Creator
Osawa Yoshimitsu
Bo Ryosuke
Mushimoto Yuichi
Source Title
Molecular Genetics and Metabolism Reports
Volume 33
Journal Identifire
EISSN 2214-4269
Language
eng
Resource Type journal article
Publisher
Elsevier Inc.
Date of Issued 2022-11-14
Access Rights metadata only access
Relation
[DOI] 10.1016/j.ymgmr.2022.100940
[PMID] 36406819