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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Ming-Yang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne‐Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buneß, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl‐Heinz Grzeschik, Regina C. Betz, Zhimiao Lin

2020The American Journal of Human Genetics61 citationsDOIOpen Access PDF

Topics & Concepts

Sterol regulatory element-binding proteinBiologyTranscription factorGeneticsIchthyosisCell biologyGeneLipid metabolism and biosynthesisCholesterol and Lipid MetabolismRNA Research and Splicing
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome | Litcius