A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.
作者信息
Chaudhary Ajay K, Girisha Katta M, Bashyam Murali D
机构信息
Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
出版信息
Am J Med Genet A. 2016 Jun;170(6):1639-41. doi: 10.1002/ajmg.a.37607. Epub 2016 Mar 15.
PMID:26991760
Abstract
摘要
Zotero 插件