Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient

Parvathy Venugopal; Sarah Moore; David M. Lawrence; Amee J. George; Ross D. Hannan; Sarah C.E. Bray; Luen Bik To; Richard J. D’Andrea; Jinghua Feng; Amanda Tirimacco; Alexandra L. Yeoman; Chun Chun Young; Miriam Fine; Andreas W. Schreiber; Christopher N. Hahn; Christopher Barnett; Ben Saxon; Hamish S. Scott

doi:10.3324/haematol.2017.166678

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient

Parvathy Venugopal, Sarah Moore, David M. Lawrence, Amee J. George, Ross D. Hannan, Sarah C.E. Bray, Luen Bik To, Richard J. D’Andrea, Jinghua Feng, Amanda Tirimacco, Alexandra L. Yeoman, Chun Chun Young, Miriam Fine, Andreas W. Schreiber, Christopher N. Hahn, Christopher Barnett, Ben Saxon, Hamish S. Scott^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/debate › peer-review

26 Citations (Scopus)

Original language	English
Pages (from-to)	e506-e509
Journal	Haematologica
Volume	102
Issue number	12
DOIs	https://doi.org/10.3324/haematol.2017.166678
Publication status	Published - 30 Nov 2017

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Venugopal, P., Moore, S., Lawrence, D. M., George, A. J., Hannan, R. D., Bray, S. C. E., To, L. B., D’Andrea, R. J., Feng, J., Tirimacco, A., Yeoman, A. L., Young, C. C., Fine, M., Schreiber, A. W., Hahn, C. N., Barnett, C., Saxon, B., & Scott, H. S. (2017). Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Haematologica, 102(12), e506-e509. https://doi.org/10.3324/haematol.2017.166678

@article{99cf6083b698468196062fd197004790,

title = "Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient",

author = "Parvathy Venugopal and Sarah Moore and Lawrence, {David M.} and George, {Amee J.} and Hannan, {Ross D.} and Bray, {Sarah C.E.} and To, {Luen Bik} and D{\textquoteright}Andrea, {Richard J.} and Jinghua Feng and Amanda Tirimacco and Yeoman, {Alexandra L.} and Young, {Chun Chun} and Miriam Fine and Schreiber, {Andreas W.} and Hahn, {Christopher N.} and Christopher Barnett and Ben Saxon and Scott, {Hamish S.}",

year = "2017",

month = nov,

day = "30",

doi = "10.3324/haematol.2017.166678",

language = "English",

volume = "102",

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journal = "Haematologica",

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Venugopal, P, Moore, S, Lawrence, DM, George, AJ , Hannan, RD, Bray, SCE, To, LB, D’Andrea, RJ, Feng, J, Tirimacco, A, Yeoman, AL, Young, CC, Fine, M, Schreiber, AW, Hahn, CN, Barnett, C, Saxon, B & Scott, HS 2017, 'Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient', Haematologica, vol. 102, no. 12, pp. e506-e509. https://doi.org/10.3324/haematol.2017.166678

TY - JOUR

T1 - Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient

AU - Venugopal, Parvathy

AU - Moore, Sarah

AU - Lawrence, David M.

AU - George, Amee J.

AU - Hannan, Ross D.

AU - Bray, Sarah C.E.

AU - To, Luen Bik

AU - D’Andrea, Richard J.

AU - Feng, Jinghua

AU - Tirimacco, Amanda

AU - Yeoman, Alexandra L.

AU - Young, Chun Chun

AU - Fine, Miriam

AU - Schreiber, Andreas W.

AU - Hahn, Christopher N.

AU - Barnett, Christopher

AU - Saxon, Ben

AU - Scott, Hamish S.

PY - 2017/11/30

Y1 - 2017/11/30

UR - http://www.scopus.com/inward/record.url?scp=85037057515&partnerID=8YFLogxK

U2 - 10.3324/haematol.2017.166678

DO - 10.3324/haematol.2017.166678

M3 - Comment/debate

SN - 0390-6078

VL - 102

SP - e506-e509

JO - Haematologica

JF - Haematologica

IS - 12

ER -

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient

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