Literature DB >> 24620919

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.

M He1, B-S Tang, N Li, X Mao, J Li, J-G Zhang, J-J Xiao, J Wang, H Jiang, L Shen, J-F Guo, K Xia, J-L Wang.   

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Year:  2014        PMID： 24620919     DOI： 10.1111/cge.12338

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

Review 1.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

2.  Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

Authors:  Jin He; Han Lin; Jin-Jing Li; Hui-Zhen Su; Dan-Ni Wang; Yu Lin; Ning Wang; Wan-Jin Chen
Journal:  Chin Med J (Engl)       Date:  2018-07-05       Impact factor: 2.628

3.  Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Authors:  Burcu Atasu; Ayse Nur Ozdag Acarlı; Basar Bilgic; Betül Baykan; Erol Demir; Yasemin Ozluk; Aydin Turkmen; Ann-Kathrin Hauser; Gamze Guven; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Thomas Gasser; Ebba Lohmann
Journal:  BMC Neurol       Date:  2022-03-28       Impact factor: 2.474

4.  A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.

Authors:  Hai-Feng Liu; Ting-Yun Yuan; Jia-Wu Yang; Feng Li; Fan Wang; Hong-Min Fu
Journal:  Mol Med Rep       Date:  2022-07-20       Impact factor: 3.423
  4 in total

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