Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.

作者信息

Ulbrichova Dana, Mamet Rivka, Munter Gabriel, Martasek Pavel, Schoenfeld Nili

机构信息

Department of Pediatrics and Center for Applied Genomics, 1st School of Medicine, Charles University, Prague, Czech Republic.

出版信息

Hum Genet. 2010 Jan;127(1):114.

PMID:20108425

Abstract

摘要

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