Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.
作者信息
Virmani Neha, Vellarikkal Shamsudheen Karuthedath, Verma Ankit, Jayarajan Rijith, Sakhiya Jagdish, Desai Chirag, Sivasubbu Sridhar, Scaria Vinod
机构信息
Department of Dermatology, Sakhiya Skin Clinic, Surat, Gujarat, India.
Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, New Delhi, India.
出版信息
Indian J Dermatol Venereol Leprol. 2018 May-Jun;84(3):344-346. doi: 10.4103/ijdvl.IJDVL_268_17.
PMID:29600799
Abstract
摘要
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