Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
作者信息
Wasif Naveed, Parveen Asia, Bashir Hina, Ashraf Fareeha, Ali Ehtasham, Khan Kashif Raza, Arif Amina
机构信息
Institute of Human Genetics, University of Ulm and University of Ulm Medical Center, Ulm, Germany.
Institute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), University of Lahore, Lahore, Pakistan.
出版信息
J Dermatol. 2020 Nov;47(11):e382-e383. doi: 10.1111/1346-8138.15565. Epub 2020 Aug 30.
PMID:32864751
Abstract
摘要
Zotero 插件