Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.
作者信息
Ullah Asmat, Khalid Maryam, Umair Muhammad, Khan Sher Alam, Bilal Muhammad, Khan Saadullah, Ahmad Wasim
机构信息
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
出版信息
Congenit Anom (Kyoto). 2018 Sep;58(5):173-175. doi: 10.1111/cga.12264. Epub 2017 Dec 22.
PMID:29232001
Abstract
摘要
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