Gene symbol: HMBS. Disease: porphyria, acute intermittent.

作者信息

Di Pierro E, Besana V, Moriondo V, Brancaleoni V, Cappellini M D

机构信息

Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy.

出版信息

Hum Genet. 2006 Apr;119(3):364. doi: 10.1007/s00439-006-0139-8.

DOI:10.1007/s00439-006-0139-8

PMID:16491346

Abstract

摘要

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引用本文的文献

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

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