Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
作者信息
Coutinho Maria Francisca, Santos Liliana da Silva, Girisha Katta Mohan, Satyamoorthy Kapaettu, Lacerda Lúcia, Prata Maria João, Alves Sandra
机构信息
Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.
出版信息
Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 11.
PMID:22495880
Abstract
摘要
Zotero 插件