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Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase deficiency
Author(s) -
Fukao Toshiyuki,
Song XiangQian,
Yamaguchi Seiji,
Kondo Naomi,
Orii Tadao,
Matthieu JeanMarie,
Bachmann Claude,
Hashimoto Takashi
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:3<277::aid-humu11>3.0.co;2-#
Subject(s) - frameshift mutation , biology , thiolase , genetics , gene , identification (biology) , mitochondrial disease , mutation , microbiology and biotechnology , mitochondrial dna , peroxisome , botany