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Mitochondrial acetoacetyl‐coenzyme a thiolase gene: A Novel 68‐bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β‐ketothiolase deficiency
Author(s) -
Fukao Toshiyuki,
Song XiangQian,
Yamaguchi Seiji,
Orii Tadao,
Wanders Ronald J. A.,
PollThe Bwee. T.,
Hashimoto Takashi
Publication year - 1995
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/humu.1380050113
Subject(s) - medical school , exon , university hospital , medicine , thiolase , pediatrics , family medicine , genetics , gene , biology , medical education , peroxisome