Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias

Short title	Molecular Genetic Investigation of Patients with Congenital Thrombocytopenias
Status	Finished
Effective start/end date	18/11/13 → 17/11/16

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., 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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153 Downloads (Pure)
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data
UK GAPP Study Group, Jan 2021, In: Journal of Thrombosis and Haemostasis. 19, 1, p. 262-268 7 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
2 Citations (Scopus)

198 Downloads (Pure)

Project Details