A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes
Author:
Funder
the National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-020-02192-w.pdf
Reference50 articles.
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4. Bonavolonta G, Strianese D, Grassi P, Comune C, Tranfa F, Uccello G, Iuliano A (2013) An analysis of 2,480 space-occupying lesions of the orbit from 1976 to 2011. Ophthalmic Plast Reconstr Surg 29:79–86. https://doi.org/10.1097/IOP.0b013e31827a7622
5. Cai Y, Schrenk S, Goines J, Davis GE, Boscolo E (2019) Constitutive active mutant TIE2 induces enlarged vascular lumen formation with loss of apico-basal polarity and pericyte recruitment. Sci Rep 9:12352. https://doi.org/10.1038/s41598-019-48854-2
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