Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

DM Hellebrekers; S Sallevelt; T E J Theunissen; ATM Hendrickx; RW Gottschalk; JGJ (Janneke) Hoeijmakers; DD Habets; J Bierau; Kees Schoonderwoerd; HJM Smeets

doi:10.1038/ejhg.2017.62

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

DM Hellebrekers, S Sallevelt, T E J Theunissen, ATM Hendrickx, RW Gottschalk, JGJ (Janneke) Hoeijmakers, DD Habets, J Bierau, Kees Schoonderwoerd, HJM Smeets

Clinical Genetics

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

35 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	886-888
Number of pages	3
Journal	European Journal of Human Genetics
Volume	25
Issue number	7
DOIs	https://doi.org/10.1038/ejhg.2017.62
Publication status	Published - 2017

Research programs

EMC OR-01

Access to Document

10.1038/ejhg.2017.62

http://hdl.handle.net/1765/100447

Cite this

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title = "Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype",

author = "DM Hellebrekers and S Sallevelt and Theunissen, {T E J} and ATM Hendrickx and RW Gottschalk and Hoeijmakers, {JGJ (Janneke)} and DD Habets and J Bierau and Kees Schoonderwoerd and HJM Smeets",

year = "2017",

doi = "10.1038/ejhg.2017.62",

language = "Undefined/Unknown",

volume = "25",

pages = "886--888",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "7",

}

TY - JOUR

T1 - Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

AU - Hellebrekers, DM

AU - Sallevelt, S

AU - Theunissen, T E J

AU - Hendrickx, ATM

AU - Gottschalk, RW

AU - Hoeijmakers, JGJ (Janneke)

AU - Habets, DD

AU - Bierau, J

AU - Schoonderwoerd, Kees

AU - Smeets, HJM

PY - 2017

Y1 - 2017

U2 - 10.1038/ejhg.2017.62

DO - 10.1038/ejhg.2017.62

M3 - Article

C2 - 28443623

SN - 1018-4813

VL - 25

SP - 886

EP - 888

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

ER -