A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features-Reference-Cited by-同舟云学术

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Published:2018-02-01 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Mohamoud Hussein Sheikh,Ahmed Saleem,Jelani Musharraf^ORCID,Alrayes Nuha,Childs Kay,Vadgama Nirmal,Almramhi Mona Mohammad,Al-Aama Jumana Yousuf,Goodbourn Steve,Nasir Jamal

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-20658-w.pdf

Reference33 articles.

1. Unal Gulsuner, H. et al. Mitochondrial serine protease HTRA2p.G399S in a kindred with essential tremor and Parkinson disease. Proc. Natl. Acad. Sci. USA 111(51), 18285–90 (2014).

2. Özçelik, T. & Onat, O. E. Genomic landscape of the Greater Middle East. Nat. Genet. 48(9), 978–9 (2016).

3. Jones, W. D. et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am. J. Hum. Genet. 91(2), 358–64 (2012).

4. Ahmed, S. et al. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. J. Neurol. Sci. 353(1–2), 149–54 (2015).

5. Alrayes, N. et al. Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). BMC Res. Notes. 8, 271 (2015).

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