Novel mutations in the <scp> HADHB </scp> gene causing a mild phenotype of mitochondrial trifunctional protein ( <scp>MTP</scp> ) deficiency

Authors :: Kristin Ørstavik
Kjell Arne Arntzen
Per Mathisen
Paul Hoff Backe
Trine Tangeraas
Magnhild Rasmussen
Erle Kristensen
Marijke Van Ghelue
Christoffer Jonsrud
Yngve Thomas Bliksrud
Source :: JIMD Reports. 63:193-198
Publication Year :: 2022
Publisher :: Wiley, 2022.

Subjects :: Endocrinology, Diabetes and Metabolism
Internal Medicine
Biochemistry, Genetics and Molecular Biology (miscellaneous)

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