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Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency
Author(s) -
Mrázová L.,
Fukao T.,
Hálovd K.,
Gregová E.,
Kohút V.,
Přibyl D.,
Chrastina P.,
Kondo N.,
Pospišilová E.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-7497-6
Subject(s) - thiolase , missense mutation , genetics , mutation , biology , gene , peroxisome
Summary We report a new patient with acetoacetyl‐CoA thiolase deficiency in whom we found two new missense mutations.