An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations-Reference-Cited by-同舟云学术

An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations

Published:2019-08-27 Issue:1 Volume:17 Page:
ISSN:1546-0096
Container-title:Pediatric Rheumatology
language:en
Short-container-title:Pediatr Rheumatol

Author:

Patwardhan Anjali^ORCID,Spencer Charles H.

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12969-019-0359-9.pdf

Reference15 articles.

1. Chow VT, Quek HH. HEP-COP, a novel human gene whose product is highly homologous to the alpha-subunit of the yeast coatomer protein complex. Gene. 1996;169(2):223–7.

2. Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, et al. Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Res. 2018;4(2):00017-2018. https://doi.org/10.1183/23120541.00017-2018 .

3. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47(6):654–60.

4. Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. BMC Med Genet. 2017;18(1):129.

5. Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, et al. Copa syndrome: a novel autosomal dominant immune Dysregulatory disease. J Clin Immunol. 2016;36(4):377–87.

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