Open AccessP797: METABOLIC PROFILING IN ERCC6L2 AND SHWACHMAN DIAMOND SYNDROME
Author(s) -
Kaaja I.,
Douglas S. P.,
Räisänen T. H.,
Haimilahti K.,
Nieminen A. I.,
Pirinen E.,
WartiovaaraKautto U.,
Kilpivaara O.
Publication year - 2022
Publication title -
hemasphere
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 11
ISSN - 2572-9241
DOI - 10.1097/01.hs9.0000846072.10385.96
Subject(s) - mitochondrial dna , biology , mitochondrial disease , germline mutation , mitochondrion , somatic cell , genetics , mitochondrial biogenesis , mutation , cancer research , microbiology and biotechnology , gene