A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H Bikker; HD Bakker; NGGM Abeling; BT Poll-The; WJ (Wim) Kleijer; DS Rosenblatt; HR Waterham; RJA Wanders; M (Mercedes) Duran

doi:10.1002/humu.20373

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H Bikker, HD Bakker, NGGM Abeling, BT Poll-The, WJ (Wim) Kleijer, DS Rosenblatt, HR Waterham, RJA Wanders, M (Mercedes) Duran

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

25 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	640-643
Number of pages	4
Journal	Human Mutation
Volume	27
Issue number	7
DOIs	https://doi.org/10.1002/humu.20373
Publication status	Published - 2006

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10.1002/humu.20373

http://hdl.handle.net/1765/66888

Cite this

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title = "A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria",

author = "H Bikker and HD Bakker and NGGM Abeling and BT Poll-The and Kleijer, {WJ (Wim)} and DS Rosenblatt and HR Waterham and RJA Wanders and Duran, {M (Mercedes)}",

year = "2006",

doi = "10.1002/humu.20373",

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journal = "Human Mutation",

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AU - Bikker, H

AU - Bakker, HD

AU - Abeling, NGGM

AU - Poll-The, BT

AU - Kleijer, WJ (Wim)

AU - Rosenblatt, DS

AU - Waterham, HR

AU - Wanders, RJA

AU - Duran, M (Mercedes)

PY - 2006

Y1 - 2006

U2 - 10.1002/humu.20373

DO - 10.1002/humu.20373

M3 - Article

SN - 1059-7794

VL - 27

SP - 640

EP - 643

JO - Human Mutation

JF - Human Mutation

IS - 7

ER -