Polarographic and enzymatic defect in mitochondrial complex III caused by BCSIL mutations in a girl with clinical features of both Bjornstad syndrome and GRACILE syndrome.

被引：0

作者：

Cohen, Bruce H.

Barshop, Bruce A.

Hinson, J. Travis

Hoppel, Charles L.

Seidman, J. G.

Seidman, Christine E.

机构：

[1] Cleveland Clin Fdn, Inst Neurosci, Dept Pediat, Cleveland, OH 44195 USA

[2] Univ Calif San Diego, San Diego, CA 92103 USA

[3] Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02138 USA

[4] Howard Hughes Med Inst, Coconut Grove, FL 33133 USA

[5] Case Western Reserve Univ, Div Clin Pharmacol, Cleveland, OH 44106 USA

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暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：248 / 249

页数：2