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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 beta-ketothiolase deficiency.
Hum Mutat 1995; 5(1):94-6HM

Authors+Show Affiliations

Department of Pediatrics, Gifu University School of Medicine, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7728155

Citation

Fukao, T, et al. "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 Beta-ketothiolase Deficiency." Human Mutation, vol. 5, no. 1, 1995, pp. 94-6.
Fukao T, Song XQ, Yamaguchi S, et al. 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 beta-ketothiolase deficiency. Hum Mutat. 1995;5(1):94-6.
Fukao, T., Song, X. Q., Yamaguchi, S., Orii, T., Wanders, R. J., Poll-The, B. T., & Hashimoto, T. (1995). 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 beta-ketothiolase deficiency. Human Mutation, 5(1), pp. 94-6.
Fukao T, et al. 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 Beta-ketothiolase Deficiency. Hum Mutat. 1995;5(1):94-6. PubMed PMID: 7728155.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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 beta-ketothiolase deficiency. AU - Fukao,T, AU - Song,X Q, AU - Yamaguchi,S, AU - Orii,T, AU - Wanders,R J, AU - Poll-The,B T, AU - Hashimoto,T, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 94 EP - 6 JF - Human mutation JO - Hum. Mutat. VL - 5 IS - 1 SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/7728155/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_beta_ketothiolase_deficiency_ L2 - https://doi.org/10.1002/humu.1380050113 DB - PRIME DP - Unbound Medicine ER -