A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

J. W. Yun; K. I. Jo; H. I. Woo; S. Y. Lee; C. S. Ki; J. W. Kim; J. Song; D. H. Lee; Y. W. Lee; H. D. Park

doi:10.1111/cge.12350

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

J. W. Yun
, K. I. Jo
, H. I. Woo
, S. Y. Lee
, C. S. Ki
, J. W. Kim
, J. Song
, D. H. Lee
, Y. W. Lee
, H. D. Park

Sungkyunkwan University
Soonchunhyang University
Seoul National University

Research output: Contribution to journal › Letter › peer-review

12 Scopus citations

Original language	English
Pages (from-to)	196-198
Number of pages	3
Journal	Clinical Genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1111/cge.12350
State	Published - 1 Feb 2015
Externally published	Yes

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10.1111/cge.12350

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title = "A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum",

author = "Yun, \{J. W.\} and Jo, \{K. I.\} and Woo, \{H. I.\} and Lee, \{S. Y.\} and Ki, \{C. S.\} and Kim, \{J. W.\} and J. Song and Lee, \{D. H.\} and Lee, \{Y. W.\} and Park, \{H. D.\}",

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T1 - A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

AU - Yun, J. W.

AU - Jo, K. I.

AU - Woo, H. I.

AU - Lee, S. Y.

AU - Ki, C. S.

AU - Kim, J. W.

AU - Song, J.

AU - Lee, D. H.

AU - Lee, Y. W.

AU - Park, H. D.

PY - 2015/2/1

Y1 - 2015/2/1

UR - https://www.scopus.com/pages/publications/84921433454

U2 - 10.1111/cge.12350

DO - 10.1111/cge.12350

M3 - Letter

C2 - 24635911

AN - SCOPUS:84921433454

SN - 0009-9163

VL - 87

SP - 196

EP - 198

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

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