Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency

被引：8

作者：

Cho, S. Y.

Park, H-D ^{[2
]}

Lee, Y-W ^{[3
,4
]}

Ki, C-S ^{[2
]}

Lee, S-Y ^{[2
]}

Sohn, Y. B.

Park, S. W.

Kim, S. H.

Ji, S.

Kim, S. J. ^{[5
]}

Choi, E. W. ^{[6
]}

Kim, C. H. ^{[7
]}

Ko, A-r ^{[7
]}

Paik, K-H

Lee, D. H. ^{[8
]}

Jin, D-K ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Dept Pediat, Samsung Med Ctr, Seoul 135710, South Korea

[2] Sungkyunkwan Univ, Sch Med, Lab Med & Genet, Samsung Med Ctr, Seoul 135710, South Korea

[3] Soonchunhyang Univ, Bucheon Hosp, Dept Lab Med & Genet, Puchon, South Korea

[4] Soonchunhyang Univ, Coll Med, Puchon, South Korea

[5] Natl Canc Ctr, Ctr Pediat Oncol, Goyang, South Korea

[6] Samsung Biomed Res Inst, Lab Anim Res Ctr, Seoul, South Korea

[7] Samsung Biomed Res Inst, Clin Res Ctr, Seoul, South Korea

[8] Soonchunhyang Univ, Coll Med, Dept Pediat, Seoul, South Korea

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 01期

关键词：

MCCA;

D O I：

10.1111/j.1399-0004.2011.01704.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：96 / 98

页数：3

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