Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide-Reference-Cited by-同舟云学术

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

Published:2003-05-13 Issue:6 Volume:21 Page:587-592
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Fukao Toshiyuki,Matsuo Naoki,Zhang Gai Xiu,Urasawa Rintaro,Kubo Tetsuo,Kohno Yoshinori,Kondo Naomi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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2. A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

3. Human basic fibroblast growth factor gene encodes four polypeptides: three initiate translation from non-AUG codons.

4. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria

5. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

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