PREPL deficiency: delineation of the phenotype and development of a functional blood assay

L Regal; E Martensson; I Maystadt; N Voermans; D Lederer; A Burlina; MJJ Fita; Jeannette Hoogeboom; MO Engman; T Hollemans; Marianne Schouten; S Meulemans; T Jonson; I Francois; DG Ortega; EJ Kamsteeg; JWM Creemers

doi:10.1038/gim.2017.74

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

L Regal, E Martensson, I Maystadt, N Voermans, D Lederer, A Burlina, MJJ Fita, Jeannette Hoogeboom, MO Engman, T Hollemans, Marianne Schouten, S Meulemans, T Jonson, I Francois, DG Ortega, EJ Kamsteeg, JWM Creemers

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

16 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	109-118
Number of pages	10
Journal	Genetics in Medicine
Volume	20
Issue number	1
DOIs	https://doi.org/10.1038/gim.2017.74
Publication status	Published - 2018

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10.1038/gim.2017.74

http://hdl.handle.net/1765/104072

Cite this

Regal, L., Martensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Fita, MJJ., Hoogeboom, J., Engman, MO., Hollemans, T., Schouten, M., Meulemans, S., Jonson, T., Francois, I., Ortega, DG., Kamsteeg, EJ., & Creemers, JWM. (2018). PREPL deficiency: delineation of the phenotype and development of a functional blood assay. Genetics in Medicine, 20(1), 109-118. https://doi.org/10.1038/gim.2017.74

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author = "L Regal and E Martensson and I Maystadt and N Voermans and D Lederer and A Burlina and MJJ Fita and Jeannette Hoogeboom and MO Engman and T Hollemans and Marianne Schouten and S Meulemans and T Jonson and I Francois and DG Ortega and EJ Kamsteeg and JWM Creemers",

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Regal, L, Martensson, E, Maystadt, I, Voermans, N, Lederer, D, Burlina, A, Fita, MJJ, Hoogeboom, J, Engman, MO, Hollemans, T, Schouten, M, Meulemans, S, Jonson, T, Francois, I, Ortega, DG, Kamsteeg, EJ & Creemers, JWM 2018, 'PREPL deficiency: delineation of the phenotype and development of a functional blood assay', Genetics in Medicine, vol. 20, no. 1, pp. 109-118. https://doi.org/10.1038/gim.2017.74

TY - JOUR

T1 - PREPL deficiency: delineation of the phenotype and development of a functional blood assay

AU - Regal, L

AU - Martensson, E

AU - Maystadt, I

AU - Voermans, N

AU - Lederer, D

AU - Burlina, A

AU - Fita, MJJ

AU - Hoogeboom, Jeannette

AU - Engman, MO

AU - Hollemans, T

AU - Schouten, Marianne

AU - Meulemans, S

AU - Jonson, T

AU - Francois, I

AU - Ortega, DG

AU - Kamsteeg, EJ

AU - Creemers, JWM

PY - 2018

Y1 - 2018

U2 - 10.1038/gim.2017.74

DO - 10.1038/gim.2017.74

M3 - Article

SN - 1098-3600

VL - 20

SP - 109

EP - 118

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 1

ER -