Identification and functional investigation of genes in patients with inherited bleeding disorders

Short title	Identification and functional investigation of genes in patients with inherited bleeding disorders
Status	Finished
Effective start/end date	28/09/15 → 27/09/18

Comprehensive functional characterisation of a novel ANO6 variant in a new patient with Scott Syndrome
Montague, S., Price, J., Pennycott, K., Pavey, N., Slater, E., Thirlwell, I., Kemble, S., Monteiro, C., Redmond-Motteram, L., Lawson, N., Reynolds, K., Fratter, C., Bignell, P., Groenheide, A., Huskens, D., Laat, B. D., Pike, J. A., Poulter, N., Thomas, S., Lowe, G., & 3 othersLancashire, J., Harrison, P. & Morgan, N., 15 Mar 2024, (E-pub ahead of print) In: Journal of Thrombosis and Haemostasis.
Research output: Contribution to journal › Article › peer-review
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases
Vyas, H., Alcheikh, A., Lowe, G., Stevenson, W. S., Morgan, N. & Rabbolini, D. J., 17 Nov 2022, In: Platelets. 33, 8, p. 1107-1112 6 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
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102 Downloads (Pure)
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects and excessive bleeding
The UK GAPP Study Group, Stapley, R., Poulter, N., Khan, A., Smith, C., Bignell, P., Fratter, C., Lester, W., Lowe, G. & Morgan, N., 10 Nov 2021, In: Journal of Thrombosis and Haemostasis. 8 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
47 Downloads (Pure)

Project Details