Significant liver disease in a patient with Y116H mutation in the MVK gene.
作者信息
Leyva-Vega Melissa, Weiss Pamela F, Ganesh Jaya, Conlin Laura, Spinner Nancy B, Matthews Randolph P
机构信息
Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
出版信息
Am J Med Genet A. 2011 Jun;155A(6):1461-4. doi: 10.1002/ajmg.a.33915. Epub 2011 May 5.
PMID:21548022
Abstract
摘要
Zotero 插件