DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
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Authors
Logan, Clare V
Murray, Jennie E
Robertson, Andrea
Bellelli, Roberto
Tarnauskaitė, Žygimantė
Challis, Rachel
Cleal, Louise
Borel, Valerie
Fluteau, Adeline
Santoyo-Lopez, Javier
SGP Consortium,
Aitman, Tim
Basel, Donald
Bicknell, Louise S
Goel, Himanshu
Hu, Hao
Huff, Chad
Hutchison, Michele
Knox, Rachel
Lacroix, Amy E
Langlois, Sylvie
McCandless, Shawn
McCarrier, Julie
Metcalfe, Kay A
Morrissey, Rose
Murphy, Nuala
Netchine, Irène
O'Connell, Susan M
Olney, Ann Haskins
Paria, Nandina
Rosenfeld, Jill A
Sherlock, Mark
Syverson, Erin
White, Perrin C
Wise, Carol
Yu, Yao
Zacharin, Margaret
Banerjee, Indraneel
Bober, Michael B
Semple, Robert K
Boulton, Simon J
Rios, Jonathan J
Publication Date
2018-12Journal Title
American journal of human genetics
ISSN
0002-9297
Volume
103
Issue
6
Pages
1038-1044
Language
eng
Type
Article
This Version
VoR
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Logan, C. V., Murray, J. E., Parry, D. A., Robertson, A., Bellelli, R., Tarnauskaitė, Ž., Challis, R., et al. (2018). DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.. American journal of human genetics, 103 (6), 1038-1044. https://doi.org/10.1016/j.ajhg.2018.10.024
Keywords
SGP Consortium, Humans, Osteochondrodysplasias, Urogenital Abnormalities, Fetal Growth Retardation, Adrenal Insufficiency, DNA Polymerase II, DNA Replication, Phenotype, Mutation, Alleles, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Cyclin-Dependent Kinase Inhibitor p57, Young Adult, Poly-ADP-Ribose Binding Proteins
Identifiers
External DOI: https://doi.org/10.1016/j.ajhg.2018.10.024
This record's URL: https://www.repository.cam.ac.uk/handle/1810/294780
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/