纯合子核纤层蛋白A/C基因无义突变的致死表型
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene作者机构：Nijmegen Institute of Neurology Department of Pathology University Medical Centre Nijmegen 6500 HB Nijmegen Netherlands Dr.
出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)
年 卷 期：2005年第1卷第6期
页 面：48-48页
学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学]
摘 要：The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.
维普期刊数据库
同方期刊数据库