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

T. Fukao; X. Q. Song; S. Yamaguchi; T. Orii; R. J. Wanders; B. T. Poll-The; T. Hashimoto

doi:https://doi.org/10.1002/humu.1380050113

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

T. Fukao, X. Q. Song, S. Yamaguchi, T. Orii, R. J. Wanders, B. T. Poll-The, T. Hashimoto

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Research output: Contribution to journal › Comment/Letter to the editor › Academic

12 Citations (Scopus)

Original language	English
Pages (from-to)	94-96
Journal	Human mutation
Volume	5
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380050113
Publication status	Published - 1995

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https://doi.org/10.1002/humu.1380050113

Cite this

@article{680dd057b76449c98a032259da9460de,

title = "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",

author = "T. Fukao and Song, {X. Q.} and S. Yamaguchi and T. Orii and Wanders, {R. J.} and Poll-The, {B. T.} and T. Hashimoto",

year = "1995",

doi = "https://doi.org/10.1002/humu.1380050113",

language = "English",

volume = "5",

pages = "94--96",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "1",

}

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. / Fukao, T.; Song, X. Q.; Yamaguchi, S. et al.
In: Human mutation, Vol. 5, No. 1, 1995, p. 94-96.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

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

Y1 - 1995

U2 - https://doi.org/10.1002/humu.1380050113

DO - https://doi.org/10.1002/humu.1380050113

M3 - Comment/Letter to the editor

C2 - 7728155

SN - 1059-7794

VL - 5

SP - 94

EP - 96

JO - Human mutation

JF - Human mutation

IS - 1

ER -