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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 beta-ketothiolase deficiency.
Hum Mutat 1997; 9(3):277-9HM

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 availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9090533

Citation

Fukao, T, et al. "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 Beta-ketothiolase Deficiency." Human Mutation, vol. 9, no. 3, 1997, pp. 277-9.
Fukao T, Song XQ, Yamaguchi S, et al. 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 beta-ketothiolase deficiency. Hum Mutat. 1997;9(3):277-9.
Fukao, T., Song, X. Q., Yamaguchi, S., Kondo, N., Orii, T., Matthieu, J. M., ... Hashimoto, T. (1997). 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 beta-ketothiolase deficiency. Human Mutation, 9(3), pp. 277-9.
Fukao T, et al. 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 Beta-ketothiolase Deficiency. Hum Mutat. 1997;9(3):277-9. PubMed PMID: 9090533.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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 beta-ketothiolase deficiency. AU - Fukao,T, AU - Song,X Q, AU - Yamaguchi,S, AU - Kondo,N, AU - Orii,T, AU - Matthieu,J M, AU - Bachmann,C, AU - Hashimoto,T, PY - 1997/1/1/pubmed PY - 2000/6/22/medline PY - 1997/1/1/entrez SP - 277 EP - 9 JF - Human mutation JO - Hum. Mutat. VL - 9 IS - 3 SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/9090533/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_beta_ketothiolase_deficiency_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-# DB - PRIME DP - Unbound Medicine ER -