Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
作者信息
Pasutto Francesca, Flinter Frances, Rauch Anita, Reis André
机构信息
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Department of Clinical Genetics, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
出版信息
Am J Med Genet A. 2018 Jan;176(1):134-138. doi: 10.1002/ajmg.a.38529. Epub 2017 Nov 23.
PMID:29168296
Abstract
摘要
Zotero 插件