Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

C Babbs; NA Roberts; L Sanchez-Pulido; SJ McGowan; MR Ahmed; JM Brown; MA Sabry; WGS500 Consortium; DR Bentley; GA McVean; P Donnelly; O Gileadi; VJ Buckle

doi:10.3324/haematol.2013.089490

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

C Babbs, NA Roberts, L Sanchez-Pulido, SJ McGowan, MR Ahmed, JM Brown, MA Sabry, WGS500 Consortium, DR Bentley, GA McVean, P Donnelly, O Gileadi, VJ Buckle

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Haematologica
DOIs	https://doi.org/10.3324/haematol.2013.089490
Publication status	Published - May 2013

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10.3324/haematol.2013.089490

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@article{f3ecec494b894904b2d296a8b6b89b37,

title = "Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.",

author = "C Babbs and NA Roberts and L Sanchez-Pulido and SJ McGowan and MR Ahmed and JM Brown and MA Sabry and WGS500 Consortium and DR Bentley and GA McVean and P Donnelly and O Gileadi and VJ Buckle",

year = "2013",

month = may,

doi = "10.3324/haematol.2013.089490",

language = "English",

journal = "Haematologica",

issn = "0390-6078",

publisher = "Ferrata Storti Foundation",

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TY - JOUR

T1 - Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

AU - Babbs, C

AU - Roberts, NA

AU - Sanchez-Pulido, L

AU - McGowan, SJ

AU - Ahmed, MR

AU - Brown, JM

AU - Sabry, MA

AU - Consortium, WGS500

AU - Bentley, DR

AU - McVean, GA

AU - Donnelly, P

AU - Gileadi, O

AU - Buckle, VJ

PY - 2013/5

Y1 - 2013/5

UR - http://europepmc.org/abstract/med/23716552

U2 - 10.3324/haematol.2013.089490

DO - 10.3324/haematol.2013.089490

M3 - Article

C2 - 23716552

SN - 0390-6078

JO - Haematologica

JF - Haematologica

ER -