Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Monica Nino Martinez; Stijn in 't Groen; Atze Bergsma; N.A.M.E. van der Beek; MJ Kroos; Marianne Hoogeveen - Westerveld; Ans van der Ploeg; Pim Pijnappel

doi:10.1002/humu.23854

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

Monica Nino Martinez
, Stijn in 't Groen
, Atze Bergsma
, N.A.M.E. van der Beek
, MJ Kroos
, Marianne Hoogeveen - Westerveld
, Ans van der Ploeg
, Pim Pijnappel

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

57 Citations (Scopus)

50 Downloads (Pure)

Original language	Undefined/Unknown
Journal	Human Mutation
DOIs	https://doi.org/10.1002/humu.23854
Publication status	Published - 2019

Research programs

EMC MM-01-54-01

Access to Document

10.1002/humu.23854

Repub_119422_O-A.pdfFinal published version, 1.39 MB

http://hdl.handle.net/1765/119422

Cite this

@article{bea21170c3d14d8d96310e59d5375e01,

title = "Extension of the Pompe mutation database by linking disease-associated variants to clinical severity",

author = "\{Nino Martinez\}, Monica and \{in 't Groen\}, Stijn and Atze Bergsma and \{van der Beek\}, N.A.M.E. and MJ Kroos and \{Hoogeveen - Westerveld\}, Marianne and \{van der Ploeg\}, Ans and Pim Pijnappel",

year = "2019",

doi = "10.1002/humu.23854",

language = "Undefined/Unknown",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

}

TY - JOUR

T1 - Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

AU - Nino Martinez, Monica

AU - in 't Groen, Stijn

AU - Bergsma, Atze

AU - van der Beek, N.A.M.E.

AU - Kroos, MJ

AU - Hoogeveen - Westerveld, Marianne

AU - van der Ploeg, Ans

AU - Pijnappel, Pim

PY - 2019

Y1 - 2019

U2 - 10.1002/humu.23854

DO - 10.1002/humu.23854

M3 - Article

C2 - 31254424

SN - 1059-7794

JO - Human Mutation

JF - Human Mutation

ER -