Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication.

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作者信息

Abramowicz M J, Cochaux P, Cohen L H, Vamos E

机构信息

Department of Genetics, Brussels University Clinics, Erasme Hospital, Belgium.

出版信息

J Inherit Metab Dis. 1996;19(2):109-11. doi: 10.1007/BF01799405.

DOI:10.1007/BF01799405

PMID:8739941

Abstract

摘要

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本文引用的文献

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.一个导致自身免疫性疾病的常染色体位点：I型自身免疫性多腺体疾病定位于21号染色体。

Nat Genet. 1994 Sep;8(1):83-7. doi: 10.1038/ng0994-83.

Mitochondrial DNA: does more lead to less?线粒体DNA：多会导致少吗？

Nat Genet. 1994 Dec;8(4):313-5. doi: 10.1038/ng1294-313.

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.线粒体基因组母系遗传重复与近端肾小管病、糖尿病和小脑共济失调综合征

Am J Hum Genet. 1992 Feb;50(2):364-70.

Kearns-Sayre syndrome with hypoparathyroidism.伴有甲状旁腺功能减退的卡恩斯-塞尔综合征

Ann Neurol. 1978 Jun;3(6):513-8. doi: 10.1002/ana.410030611.

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